The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant

American Journal of Medical Genetics

Volumn 87, Issue 5, 1999, Pages 430-433

  Walter Nicolet, Elisabeth ^a   Coëslier, Anne ^a   Joriot, Sylivie ^a   Kacet, Nadine ^a   Moerman, Alexandre ^a   Manouvrier Hanu, Sylvie ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Acrofacial dysostosis; Autosomal recessive inheritance; Consanguinity; Limb anomalies; Richieri Costa and Pereira syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DYSOSTOSIS; FACE MALFORMATION; HUMAN; LIMB MALFORMATION; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PEREIRA ACROFACIAL DYSOSTOSIS; PRIORITY JOURNAL; RICHIERI COSTA ACROFACIAL DYSOSTOSIS; SYNDROME DELINEATION;

EID: 0343484995     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991222)87:5<430::AID-AJMG11>3.0.CO;2-9     Document Type: Article

References (10)

1. Bruce A, Winship I. 1993. Radial ray defect and Robin sequence: a new syndrome? Clin Dysmorphol 2:241-244.
2. Kaplan P, Plauchu H, Fitch N, Jéquier S. 1988. A new acrofacial dysostosis syndrome in sisters. Am J Med Genet 29:95-106.
3. Mafeni JO. 1993. The Robin sequence associated with partial maxillary duplication and multiple facial clefts: a case report. Afr Dent J 7:31-34.
4. Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M. 1993. Acrofacial dysostoses: review and report of a previously undescribed condition - the autosomal or X-linked dominant Catania form of aerofacial dystostosis. Am J Med Genet 47:660-678.
5. Richieri-Costa A, Gollop TR, Colletto G.MDD. 1983. Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. Am J Med Genet 14:225-229.
6. Richieri-Costa A, Pereira SCS. 1992. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies and clubfoot. A new autosomal recessive syndrome. Am J Med Genet 42:681-687.
7. Richieri-Costa A, Pereira SCS. 1993. Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients. Am J Med Genet 47:707-709.
8. Richieri-Costa A, Brandão-Almeida IL. 1997. Short stature, Robin sequence, cleft mandible, pre/postaxial hands anomalies, and clubfoot: another affected Brazilian patient born to consanguineous parents. Am J Med Genet 71:233-235.
9. Roubicek M, Spranger J. 1984. Weyers acrodental dysostosis in a family. Clin Genet 26:587-590.
10. Tabith A, Bento-Gonçalves CGA. 1996. Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis. Am J Med Genet 66:399-402.