Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report
Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Usang, Usang E. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s). 2016 |
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| Übergeordnetes Werk: |
Enthalten in: Journal of medical case reports - London : BioMed Central, 2007, 10(2016), 1 vom: 05. Aug. |
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| Übergeordnetes Werk: |
volume:10 ; year:2016 ; number:1 ; day:05 ; month:08 |
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| DOI / URN: |
10.1186/s13256-016-1011-7 |
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SPR031061494 |
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| 520 | |a Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. | ||
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| 650 | 4 | |a Microcephaly |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Corneal opacity |7 (dpeaa)DE-He213 | |
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| 700 | 1 | |a Emehute, John-Daniel C. |4 aut | |
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10.1186/s13256-016-1011-7 doi (DE-627)SPR031061494 (SPR)s13256-016-1011-7-e DE-627 ger DE-627 rakwb eng Usang, Usang E. verfasserin aut Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 Agan, Thomas U. aut Inyang, Akan W. aut Emehute, John-Daniel C. aut Itam, Itam H. aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 10(2016), 1 vom: 05. Aug. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:10 year:2016 number:1 day:05 month:08 https://dx.doi.org/10.1186/s13256-016-1011-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2016 1 05 08 |
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10.1186/s13256-016-1011-7 doi (DE-627)SPR031061494 (SPR)s13256-016-1011-7-e DE-627 ger DE-627 rakwb eng Usang, Usang E. verfasserin aut Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 Agan, Thomas U. aut Inyang, Akan W. aut Emehute, John-Daniel C. aut Itam, Itam H. aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 10(2016), 1 vom: 05. Aug. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:10 year:2016 number:1 day:05 month:08 https://dx.doi.org/10.1186/s13256-016-1011-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2016 1 05 08 |
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10.1186/s13256-016-1011-7 doi (DE-627)SPR031061494 (SPR)s13256-016-1011-7-e DE-627 ger DE-627 rakwb eng Usang, Usang E. verfasserin aut Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 Agan, Thomas U. aut Inyang, Akan W. aut Emehute, John-Daniel C. aut Itam, Itam H. aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 10(2016), 1 vom: 05. Aug. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:10 year:2016 number:1 day:05 month:08 https://dx.doi.org/10.1186/s13256-016-1011-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2016 1 05 08 |
| allfieldsGer |
10.1186/s13256-016-1011-7 doi (DE-627)SPR031061494 (SPR)s13256-016-1011-7-e DE-627 ger DE-627 rakwb eng Usang, Usang E. verfasserin aut Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 Agan, Thomas U. aut Inyang, Akan W. aut Emehute, John-Daniel C. aut Itam, Itam H. aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 10(2016), 1 vom: 05. Aug. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:10 year:2016 number:1 day:05 month:08 https://dx.doi.org/10.1186/s13256-016-1011-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2016 1 05 08 |
| allfieldsSound |
10.1186/s13256-016-1011-7 doi (DE-627)SPR031061494 (SPR)s13256-016-1011-7-e DE-627 ger DE-627 rakwb eng Usang, Usang E. verfasserin aut Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 Agan, Thomas U. aut Inyang, Akan W. aut Emehute, John-Daniel C. aut Itam, Itam H. aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 10(2016), 1 vom: 05. Aug. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:10 year:2016 number:1 day:05 month:08 https://dx.doi.org/10.1186/s13256-016-1011-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2016 1 05 08 |
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Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. 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Usang, Usang E. |
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Usang, Usang E. misc Syndromic misc Ano-rectal malformation misc Holt–Oram syndrome misc Microcephaly misc Corneal opacity Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report |
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Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report Syndromic (dpeaa)DE-He213 Ano-rectal malformation (dpeaa)DE-He213 Holt–Oram syndrome (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Corneal opacity (dpeaa)DE-He213 |
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syndromic anorectal malformation associated with holt–oram syndrome, microcephaly, and bilateral corneal opacity: a case report |
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Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report |
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Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. © The Author(s). 2016 |
| abstractGer |
Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. © The Author(s). 2016 |
| abstract_unstemmed |
Background The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. Case presentation We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms’ tumor and died before other corrective procedures could be instituted. Conclusions An anorectal malformation is here reported to occur with Holt–Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care. © The Author(s). 2016 |
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