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Short stature, mental retardation, eye anomalies, and cleft lip/palate.
Am J Med Genet. 1992 Feb 15; 42(4):449-52.AJ

Abstract

The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.

Authors+Show Affiliations

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

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1609826

Citation

Richieri-Costa, A, and M L. Guion-Almeida. "Short Stature, Mental Retardation, Eye Anomalies, and Cleft Lip/palate." American Journal of Medical Genetics, vol. 42, no. 4, 1992, pp. 449-52.
Richieri-Costa A, Guion-Almeida ML. Short stature, mental retardation, eye anomalies, and cleft lip/palate. Am J Med Genet. 1992;42(4):449-52.
Richieri-Costa, A., & Guion-Almeida, M. L. (1992). Short stature, mental retardation, eye anomalies, and cleft lip/palate. American Journal of Medical Genetics, 42(4), 449-52.
Richieri-Costa A, Guion-Almeida ML. Short Stature, Mental Retardation, Eye Anomalies, and Cleft Lip/palate. Am J Med Genet. 1992 Feb 15;42(4):449-52. PubMed PMID: 1609826.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short stature, mental retardation, eye anomalies, and cleft lip/palate. AU - Richieri-Costa,A, AU - Guion-Almeida,M L, PY - 1992/2/15/pubmed PY - 1992/2/15/medline PY - 1992/2/15/entrez SP - 449 EP - 52 JF - American journal of medical genetics JO - Am J Med Genet VL - 42 IS - 4 N2 - The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1609826/Short_stature_mental_retardation_eye_anomalies_and_cleft_lip/palate_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=4&spage=449 DB - PRIME DP - Unbound Medicine ER -