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Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
Am J Med Genet. 1991 Dec 15; 41(4):423-5.AJ

Abstract

We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.

Authors+Show Affiliations

Kapur S
Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317.
Toriello HV
No affiliation info available

MeSH

Abnormalities, MultipleChildFemaleGenes, RecessiveHeart Defects, CongenitalHumansInfantIntellectual DisabilityIrisMaleNoseSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1776630

Citation

Kapur, S, and H V. Toriello. "Apparently New MCA/MR Syndrome in Sibs With Cleft Lip and Palate and Other Facial, Eye, Heart, and Intestinal Anomalies." American Journal of Medical Genetics, vol. 41, no. 4, 1991, pp. 423-5.
Kapur S, Toriello HV. Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. Am J Med Genet. 1991;41(4):423-5.
Kapur, S., & Toriello, H. V. (1991). Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. American Journal of Medical Genetics, 41(4), 423-5.
Kapur S, Toriello HV. Apparently New MCA/MR Syndrome in Sibs With Cleft Lip and Palate and Other Facial, Eye, Heart, and Intestinal Anomalies. Am J Med Genet. 1991 Dec 15;41(4):423-5. PubMed PMID: 1776630.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. AU - Kapur,S, AU - Toriello,H V, PY - 1991/12/15/pubmed PY - 1991/12/15/medline PY - 1991/12/15/entrez SP - 423 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 4 N2 - We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1776630/Apparently_new_MCA/MR_syndrome_in_sibs_with_cleft_lip_and_palate_and_other_facial_eye_heart_and_intestinal_anomalies_ DB - PRIME DP - Unbound Medicine ER -
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