title: The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases.
abstract: Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated in the Department of Radiology, The Hospital for Sick Children, Great Ormond Street for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests a more widespread mesodermal abnormality.
authors.affiliation: Department of Paediatric Radiology, Hospital for Sick Children, London, England.
authors.forename: A E
authors.initials: AE
authors.lastname: Boothroyd
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000000981:diagnostic imaging*; D005764:Gastroesophageal Reflux / Q000150:complications; D006801:Humans; D007223:Infant; D014057:Tomography, X-Ray Computed