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Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers.
Am J Med Genet. 1997 Dec 31; 73(4):412-5.AJ

Abstract

A "new" syndrome was identified by McPherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. Our observation of three affected brothers also raises the possibility of X-linked recessive inheritance.

Authors+Show Affiliations

Belfast City Hospital Trust, and Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, UK.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9415467

Citation

Nevin, N C., et al. "Cleft Lip and Palate, Hypertelorism, Brachycephaly, Flat Facial Profile, and Congenital Heart Disease in Three Brothers." American Journal of Medical Genetics, vol. 73, no. 4, 1997, pp. 412-5.
Nevin NC, Craig BG, Mullholland HC, et al. Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers. Am J Med Genet. 1997;73(4):412-5.
Nevin, N. C., Craig, B. G., Mullholland, H. C., & Casey, F. (1997). Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers. American Journal of Medical Genetics, 73(4), 412-5.
Nevin NC, et al. Cleft Lip and Palate, Hypertelorism, Brachycephaly, Flat Facial Profile, and Congenital Heart Disease in Three Brothers. Am J Med Genet. 1997 Dec 31;73(4):412-5. PubMed PMID: 9415467.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers. AU - Nevin,N C, AU - Craig,B G, AU - Mullholland,H C, AU - Casey,F, PY - 1998/2/7/pubmed PY - 2000/6/20/medline PY - 1998/2/7/entrez SP - 412 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 73 IS - 4 N2 - A "new" syndrome was identified by McPherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. Our observation of three affected brothers also raises the possibility of X-linked recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9415467/Cleft_lip_and_palate_hypertelorism_brachycephaly_flat_facial_profile_and_congenital_heart_disease_in_three_brothers_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=73&issue=4&spage=412 DB - PRIME DP - Unbound Medicine ER -