A NEW SYNDROME WITH CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES

Citation
Ef. Percin et al., A NEW SYNDROME WITH CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES, Clinical genetics, 48(5), 1995, pp. 264-267
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
48
Issue
5
Year of publication
1995
Pages
264 - 267
Database
ISI
SICI code
0009-9163(1995)48:5<264:ANSWCM>2.0.ZU;2-E
Abstract
A family with cardiac malformation, cleft lip-palate, short stature, m icrocephaly, distally placed thumbs, short 2nd and 5th fingers, long a nd broad 1st toes, broad distance between 1st and 2nd toes and mediodo rsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of th e family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of comm on findings in three generations, its variable expressivity and pleiot ropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.