title: Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).
abstract: We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic.
authors.affiliation: Department of Orthopaedics, Orthopaedic Hospital of Speising, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Hatem
authors.initials: H
authors.lastname: Safi
authors.forename: Maher Ben
authors.initials: MB
authors.lastname: Ghachem
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D011859:Radiography