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

Volumn 62, Issue 1, 1996, Pages 58-60

  McPherson, Elizabeth ^a   Clemens, Michele ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

autosomal recessive; cleft lip palate; congenital heart disease; hypertelorism; malrotation

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLEFT LIP; CLEFT PALATE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; FACE MALFORMATION; FEMALE; FETUS; HUMAN; HYPERTELORISM; INTESTINE MALROTATION; KARYOTYPE; MALE; NEWBORN; PRIORITY JOURNAL; SIBLING;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CLEFT LIP; CLEFT PALATE; FACE; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; INTESTINES; MALE;

EID: 0029963003     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960301)62:1<58::AID-AJMG12>3.0.CO;2-U     Document Type: Article

References (4)

1. Ayme S, Julian C, Gambarelli B, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Caries D, Rolland M, Giraud F (1989): Fryns syndrome: Report of 8 new cases. Clin Genet 35: 191-201.
2. Bain MD, Winter RM, Burn J (1986): Robinow syndrome without mesomelic brachymelia: A report of five cases. J Med Genet 23: 350-354.
3. Golabi M, Rosen L (1984): A new X-linked mental retardation overgrowth syndrome. Am J Med Genet 17:345-358.
4. Hughes-Benzie R, Hunter A, Allanson J, MacKenzie A (1992): Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor and localization of the gene to Xq cen-q21. Am J Med Genet 43:428-435.