title: The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.
abstract: 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.
authors.affiliation: Consultation de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.
authors.forename: E
authors.initials: E
authors.lastname: Walter-Nicolet
authors.forename: A
authors.initials: A
authors.lastname: Coëslier
authors.forename: S
authors.initials: S
authors.lastname: Joriot
authors.forename: N
authors.initials: N
authors.lastname: Kacet
authors.forename: A
authors.initials: A
authors.lastname: Moerman
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier-Hanu
mesh_terms: 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