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Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
Am J Med Genet. 1996 Mar 01; 62(1):58-60.AJ

Abstract

A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. These findings are not consistent with any previously recognized syndrome and represent a new condition with probable autosomal recessive inheritance.

Authors+Show Affiliations

University of Pittsburgh, Pennsylvania, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8779326

Citation

McPherson, E, and M Clemens. "Cleft Lip and Palate, Characteristic Facial Appearance, Malrotation of the Intestine, and Lethal Congenital Heart Disease in Two Sibs: a New Autosomal Recessive Condition?" American Journal of Medical Genetics, vol. 62, no. 1, 1996, pp. 58-60.
McPherson E, Clemens M. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? Am J Med Genet. 1996;62(1):58-60.
McPherson, E., & Clemens, M. (1996). Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? American Journal of Medical Genetics, 62(1), 58-60.
McPherson E, Clemens M. Cleft Lip and Palate, Characteristic Facial Appearance, Malrotation of the Intestine, and Lethal Congenital Heart Disease in Two Sibs: a New Autosomal Recessive Condition. Am J Med Genet. 1996 Mar 1;62(1):58-60. PubMed PMID: 8779326.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? AU - McPherson,E, AU - Clemens,M, PY - 1996/3/1/pubmed PY - 2000/6/20/medline PY - 1996/3/1/entrez SP - 58 EP - 60 JF - American journal of medical genetics JO - Am J Med Genet VL - 62 IS - 1 N2 - A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. These findings are not consistent with any previously recognized syndrome and represent a new condition with probable autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8779326/Cleft_lip_and_palate_characteristic_facial_appearance_malrotation_of_the_intestine_and_lethal_congenital_heart_disease_in_two_sibs:_a_new_autosomal_recessive_condition L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=1&spage=58 DB - PRIME DP - Unbound Medicine ER -