Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.
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.
Almeida
L
L
Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY.
Anyane-Yeboa
K
K
Grossman
M
M
Rosen
T
T
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