title: Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.
abstract: Focal dermal hypoplasia (FDH) is an X-linked dominantly inherited syndrome of cutaneous, skeletal, dental, ocular, and soft tissue defects. We report on a female infant with FDH with the first observation of myelomeningocele with hydrocephalus and Arnold-Chiari malformation.
authors.affiliation: Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY.
authors.forename: L
authors.initials: L
authors.lastname: Almeida
authors.forename: K
authors.initials: K
authors.lastname: Anyane-Yeboa
authors.forename: M
authors.initials: M
authors.lastname: Grossman
authors.forename: T
authors.initials: T
authors.lastname: Rosen
mesh_terms: D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000235:genetics; D007231:Infant, Newborn; D008591:Meningomyelocele / Q000150:complications* / Q000235:genetics; D013577:Syndrome