Focal dermal hypoplasia associated with split sternum--Goltz syndrome.
Focal dermal hypoplasia (Goltz syndrome) is an unusual congenital mesoectodermal syndrome. We report on a baby girl with multiple malformations, including focal dermal hypoplasia, characteristic facial features, skeletal anomalies and split sternum.
Loguercio Leite
Júlio César
JC
Medical Genetics Service - Hospital de Clínicas de Porto Alegre, Brazil. ECLAMC (Latin American Collaborative Study of Congenital Malformation): Hospital - A25.
Faermann
Renata
R
Rodrigues Stein
Nina
N
Zandoná
Denise
D
Maegawa
Gustavo
G
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D005260:Female; D006801:Humans; D012867:Skin / Q000473:pathology*; D013249:Sternum / Q000002:abnormalities*; D013577:Syndrome