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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?
- Source :
-
American journal of medical genetics [Am J Med Genet] 1996 Mar 01; Vol. 62 (1), pp. 58-60. - Publication Year :
- 1996
-
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.
- Subjects :
- Cleft Lip genetics
Cleft Palate genetics
Face abnormalities
Fatal Outcome
Female
Hand Deformities, Congenital genetics
Heart Defects, Congenital genetics
Humans
Infant, Newborn
Intestines abnormalities
Male
Abnormalities, Multiple genetics
Chromosome Aberrations
Chromosome Disorders
Genes, Recessive
Subjects
Details
- Language :
- English
- ISSN :
- 0148-7299
- Volume :
- 62
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8779326
- Full Text :
- https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1<58::AID-AJMG12>3.0.CO;2-U