title: Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.
abstract: 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.
  
  
  METHODS
  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.
authors: Division of Paediatric Surgery, Department of Surgery, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria. usangue@yahoo.co.uk.
authors: Usang E
authors: UE
authors: Usang
authors: Department of Obstetrics and Gynaecology, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria.
authors: Thomas U
authors: TU
authors: Agan
authors: Division of Paediatric Surgery, Department of Surgery, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria.
authors: Akan W
authors: AW
authors: Inyang
authors: Division of Paediatric Surgery, Department of Surgery, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria.
authors: John-Daniel C
authors: JD
authors: Emehute
authors: Department of Obstetrics and Gynaecology, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria.
authors: Itam H
authors: IH
authors: Itam
mesh_terms: D000015:Abnormalities, Multiple; D000071056:Anorectal Malformations / Q000150:complications*; D003318:Corneal Opacity / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006344:Heart Septal Defects, Atrial / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D038061:Lower Extremity Deformities, Congenital / Q000150:complications*; D008831:Microcephaly / Q000150:complications*; D009549:Nigeria; D013577:Syndrome; D038062:Upper Extremity Deformities, Congenital / Q000150:complications*
keywords: Ano-rectal malformation; Corneal opacity; Holt–Oram syndrome; Microcephaly; Syndromic