[The Coffin-Siris syndrome. Description of 4 patients and a literature review].
Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.
Afd. Kindergeneeskunde (neonatologie), Academisch Ziekenhuis St. Radboud Nijmegen.
A F
AF
van Heyst
L A
LA
Kollée
H G
HG
Brunner
D000015:Abnormalities, Multiple; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome
Het syndroom van Coffin-Siris. Beschrijving van vier patiënten en een literatuuroverzicht.