Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Clin Dysmorphol
; 15(2): 71-4, 2006 Apr.
Article
in En
| MEDLINE
| ID: mdl-16531731
ABSTRACT
We present two siblings from unrelated parents presenting with intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation (ectopic neuropituitary gland associated with a hypoplastic adenopituitary in one of them, and a hypoplastic cerebellum and vermis in the other), abnormal hair with temporal balding, a striking facial dysmorphism and, at least in the child who survived, postnatal growth retardation and severe developmental delay. This probably represents a novel syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pituitary Gland
/
Choristoma
/
Polydactyly
/
Siblings
/
Face
/
Hair
/
Heart Defects, Congenital
Limits:
Female
/
Humans
/
Infant
/
Newborn
Language:
En
Journal:
Clin Dysmorphol
Journal subject:
TERATOLOGIA
Year:
2006
Document type:
Article
Affiliation country:
Belgium