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Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.
Am J Med Genet. 1992 Mar 01; 42(5):681-7.AJ

Abstract

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

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Authors+Show Affiliations

Richieri-Costa A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Pereira SC
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolClubfootConsanguinityFemaleGenes, RecessiveGrowth DisordersHand Deformities, CongenitalHumansMandiblePedigreeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1632438

Citation

Richieri-Costa, A, and S C. Pereira. "Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot: a New Autosomal Recessive Syndrome." American Journal of Medical Genetics, vol. 42, no. 5, 1992, pp. 681-7.
Richieri-Costa A, Pereira SC. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. Am J Med Genet. 1992;42(5):681-7.
Richieri-Costa, A., & Pereira, S. C. (1992). Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. American Journal of Medical Genetics, 42(5), 681-7.
Richieri-Costa A, Pereira SC. Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot: a New Autosomal Recessive Syndrome. Am J Med Genet. 1992 Mar 1;42(5):681-7. PubMed PMID: 1632438.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. AU - Richieri-Costa,A, AU - Pereira,S C, PY - 1992/3/1/pubmed PY - 1992/3/1/medline PY - 1992/3/1/entrez SP - 681 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 42 IS - 5 N2 - We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1632438/Short_stature_Robin_sequence_cleft_mandible_pre/postaxial_hand_anomalies_and_clubfoot:_a_new_autosomal_recessive_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=5&spage=681 DB - PRIME DP - Unbound Medicine ER -