The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.
We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.
Walter-Nicolet
E
E
Consultation de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.
Coëslier
A
A
Joriot
S
S
Kacet
N
N
Moerman
A
A
Manouvrier-Hanu
S
S
D003025:Clubfoot / Q000235:genetics*; D003241:Consanguinity; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D019066:Facies; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007569:Jaw Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed