[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].
A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.
Philip
N
N
Service de pédiatrie et génétique médicale, Hôpital d'Enfants de La Timone, Marseille, France.
Garcia-Meric
P
P
Wernert
F
F
D001018:Aortic Diseases / Q000150:complications; D003286:Contracture / Q000151:congenital*; D004108:Dilatation, Pathologic / Q000150:complications; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis*; D012850:Sinus of Valsalva
Syndrome de Beals-Hecht (congenital contractural arachnodactyly) à révélation néonatale.