[Type V acrocephalosyndactylia (Pfeiffer's syndrome). Apropos of 3 cases in the same family].
We report 3 cases of acrocephalosyndactyly V (Pfeiffer syndrome) in the same family. This syndrome is characterized by coronal craniosynostosis with facial dysmorphism and specific malformations of the extremities (wide stubly adducted thumbs). The pattern of inheritance in autosomal dominant. The place of this syndrome is discussed in the group of disorders associated with acrocephalopolysyndactyly.
Service de Génétique, Hôpital Huriez, C.H.U., Lille.
S
S
Manouvrier-Hanu
B
B
Herbaux
P
P
Pellerin
P
P
Douchet
M C
MC
Bouchez-Bonniere
J P
JP
Dubos
J P
JP
Farriaux
D000015:Abnormalities, Multiple / Q000209:etiology; D000168:Acrocephalosyndactylia / Q000145:classification / Q000150:complications / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D013933:Thumb / Q000002:abnormalities
L'acrocéphalosyndactylie de type V (syndrome de Pfeiffer). A propos de 3 cas dans une même famille.