Two cases of CHARGE syndrome with multiple congenital anomalies

Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both ir...
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Autor*in:	Chang, Joo Hyun [verfasserIn] Park, Dong Ho [verfasserIn] Shin, Jae Pil [verfasserIn] Kim, In Taek [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	CHARGE syndrome Chorioretinal coloboma Coloboma Iris coloboma Congenital anomaly

Übergeordnetes Werk:	Enthalten in: International ophthalmology - Dordrecht : Springer Science + Business Media B.V., 1978, 34(2013), 3 vom: 27. Juni, Seite 623-627
Übergeordnetes Werk:	volume:34 ; year:2013 ; number:3 ; day:27 ; month:06 ; pages:623-627

Links:	Volltext

DOI / URN:	10.1007/s10792-013-9817-4

Katalog-ID:	SPR013253689

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520			\|a Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.
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allfields	10.1007/s10792-013-9817-4 doi (DE-627)SPR013253689 (SPR)s10792-013-9817-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Chang, Joo Hyun verfasserin aut Two cases of CHARGE syndrome with multiple congenital anomalies 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213 Park, Dong Ho verfasserin aut Shin, Jae Pil verfasserin aut Kim, In Taek verfasserin aut Enthalten in International ophthalmology Dordrecht : Springer Science + Business Media B.V., 1978 34(2013), 3 vom: 27. Juni, Seite 623-627 (DE-627)320481131 (DE-600)2009810-8 1573-2630 nnns volume:34 year:2013 number:3 day:27 month:06 pages:623-627 https://dx.doi.org/10.1007/s10792-013-9817-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 34 2013 3 27 06 623-627
spelling	10.1007/s10792-013-9817-4 doi (DE-627)SPR013253689 (SPR)s10792-013-9817-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Chang, Joo Hyun verfasserin aut Two cases of CHARGE syndrome with multiple congenital anomalies 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213 Park, Dong Ho verfasserin aut Shin, Jae Pil verfasserin aut Kim, In Taek verfasserin aut Enthalten in International ophthalmology Dordrecht : Springer Science + Business Media B.V., 1978 34(2013), 3 vom: 27. Juni, Seite 623-627 (DE-627)320481131 (DE-600)2009810-8 1573-2630 nnns volume:34 year:2013 number:3 day:27 month:06 pages:623-627 https://dx.doi.org/10.1007/s10792-013-9817-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 34 2013 3 27 06 623-627
allfields_unstemmed	10.1007/s10792-013-9817-4 doi (DE-627)SPR013253689 (SPR)s10792-013-9817-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Chang, Joo Hyun verfasserin aut Two cases of CHARGE syndrome with multiple congenital anomalies 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213 Park, Dong Ho verfasserin aut Shin, Jae Pil verfasserin aut Kim, In Taek verfasserin aut Enthalten in International ophthalmology Dordrecht : Springer Science + Business Media B.V., 1978 34(2013), 3 vom: 27. Juni, Seite 623-627 (DE-627)320481131 (DE-600)2009810-8 1573-2630 nnns volume:34 year:2013 number:3 day:27 month:06 pages:623-627 https://dx.doi.org/10.1007/s10792-013-9817-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 34 2013 3 27 06 623-627
allfieldsGer	10.1007/s10792-013-9817-4 doi (DE-627)SPR013253689 (SPR)s10792-013-9817-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Chang, Joo Hyun verfasserin aut Two cases of CHARGE syndrome with multiple congenital anomalies 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213 Park, Dong Ho verfasserin aut Shin, Jae Pil verfasserin aut Kim, In Taek verfasserin aut Enthalten in International ophthalmology Dordrecht : Springer Science + Business Media B.V., 1978 34(2013), 3 vom: 27. Juni, Seite 623-627 (DE-627)320481131 (DE-600)2009810-8 1573-2630 nnns volume:34 year:2013 number:3 day:27 month:06 pages:623-627 https://dx.doi.org/10.1007/s10792-013-9817-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 34 2013 3 27 06 623-627
allfieldsSound	10.1007/s10792-013-9817-4 doi (DE-627)SPR013253689 (SPR)s10792-013-9817-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.95 bkl Chang, Joo Hyun verfasserin aut Two cases of CHARGE syndrome with multiple congenital anomalies 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome. CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213 Park, Dong Ho verfasserin aut Shin, Jae Pil verfasserin aut Kim, In Taek verfasserin aut Enthalten in International ophthalmology Dordrecht : Springer Science + Business Media B.V., 1978 34(2013), 3 vom: 27. Juni, Seite 623-627 (DE-627)320481131 (DE-600)2009810-8 1573-2630 nnns volume:34 year:2013 number:3 day:27 month:06 pages:623-627 https://dx.doi.org/10.1007/s10792-013-9817-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.95 ASE AR 34 2013 3 27 06 623-627
language	English
source	Enthalten in International ophthalmology 34(2013), 3 vom: 27. Juni, Seite 623-627 volume:34 year:2013 number:3 day:27 month:06 pages:623-627
sourceStr	Enthalten in International ophthalmology 34(2013), 3 vom: 27. Juni, Seite 623-627 volume:34 year:2013 number:3 day:27 month:06 pages:623-627
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	CHARGE syndrome Chorioretinal coloboma Coloboma Iris coloboma Congenital anomaly
dewey-raw	610
isfreeaccess_bool	false
container_title	International ophthalmology
authorswithroles_txt_mv	Chang, Joo Hyun @@aut@@ Park, Dong Ho @@aut@@ Shin, Jae Pil @@aut@@ Kim, In Taek @@aut@@
publishDateDaySort_date	2013-06-27T00:00:00Z
hierarchy_top_id	320481131
dewey-sort	3610
id	SPR013253689
language_de	englisch
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author	Chang, Joo Hyun
spellingShingle	Chang, Joo Hyun ddc 610 bkl 44.95 misc CHARGE syndrome misc Chorioretinal coloboma misc Coloboma misc Iris coloboma misc Congenital anomaly Two cases of CHARGE syndrome with multiple congenital anomalies
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topic_title	610 ASE 44.95 bkl Two cases of CHARGE syndrome with multiple congenital anomalies CHARGE syndrome (dpeaa)DE-He213 Chorioretinal coloboma (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Iris coloboma (dpeaa)DE-He213 Congenital anomaly (dpeaa)DE-He213
topic	ddc 610 bkl 44.95 misc CHARGE syndrome misc Chorioretinal coloboma misc Coloboma misc Iris coloboma misc Congenital anomaly
topic_unstemmed	ddc 610 bkl 44.95 misc CHARGE syndrome misc Chorioretinal coloboma misc Coloboma misc Iris coloboma misc Congenital anomaly
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title	Two cases of CHARGE syndrome with multiple congenital anomalies
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title_full	Two cases of CHARGE syndrome with multiple congenital anomalies
author_sort	Chang, Joo Hyun
journal	International ophthalmology
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author_browse	Chang, Joo Hyun Park, Dong Ho Shin, Jae Pil Kim, In Taek
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title_sort	two cases of charge syndrome with multiple congenital anomalies
title_auth	Two cases of CHARGE syndrome with multiple congenital anomalies
abstract	Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.
abstractGer	Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.
abstract_unstemmed	Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.
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title_short	Two cases of CHARGE syndrome with multiple congenital anomalies
url	https://dx.doi.org/10.1007/s10792-013-9817-4
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author2	Park, Dong Ho Shin, Jae Pil Kim, In Taek
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up_date	2024-07-03T18:25:55.115Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR013253689</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519133614.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201006s2013 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s10792-013-9817-4</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR013253689</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s10792-013-9817-4-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.95</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Chang, Joo Hyun</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Two cases of CHARGE syndrome with multiple congenital anomalies</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2013</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract We report on two cases of bilateral chorioretinal colobomas with ocular anomalies in patients with CHARGE syndrome. In the first case, a female infant was born at 36 + 5 weeks gestation. At birth, the patient demonstrated a small left eye. Slit-lamp examination revealed colobomas of both irises. Fundus examination showed both chorioretinal colobomas. Brain magnetic resonance imaging (MRI) showed left microphthalmia. Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis. In the second case, a male infant was born at 39 + 5 weeks gestation and demonstrated a dysmorphic appearance with an irregular left pupil and ptosis. Fundus examination of both eyes showed large chorioretinal colobomas involving the optic disc and posterior pole. The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure disorder, and micropenis. Both cases revealed multiple anomalies including nearly all major and minor criteria of CHARGE syndrome which could be life-threatening to neonates. Thus, all neonates with ocular colobomas should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of CHARGE syndrome.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">CHARGE syndrome</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Chorioretinal coloboma</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Coloboma</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Iris coloboma</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Congenital anomaly</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Park, Dong Ho</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Shin, Jae Pil</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kim, In Taek</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">International ophthalmology</subfield><subfield code="d">Dordrecht : Springer Science + Business Media B.V., 1978</subfield><subfield code="g">34(2013), 3 vom: 27. 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Two cases of CHARGE syndrome with multiple congenital anomalies

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