INGUINAL-HERNIA AND ATRIAL SEPTAL-DEFECT IN TEL-HASHOMER-CAMPTODACTYLY SYNDROME - REPORT OF A NEW CASE EXPANDING THE PHENOTYPIC SPECTRUM OFTHE DISEASE

Authors
FRANCESCHINI P VARDEU MP SIGNORILE F TESTA A GUALA A FRANCESCHINI D DALFORNO L
Citation
P. Franceschini et al., INGUINAL-HERNIA AND ATRIAL SEPTAL-DEFECT IN TEL-HASHOMER-CAMPTODACTYLY SYNDROME - REPORT OF A NEW CASE EXPANDING THE PHENOTYPIC SPECTRUM OFTHE DISEASE, American journal of medical genetics, 46(3), 1993, pp. 341-344
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
46
Issue
3
Year of publication
1993
Pages
341 - 344
Database
ISI
SICI code
0148-7299(1993)46:3<341:IAASIT>2.0.ZU;2-F
Abstract
We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) bo rn to first-cousin parents. In addition to the usual findings, the pat ient had bilateral inguinal hernia and atrial septal defect, not previ ously described as component manifestations of the syndrome. The prese nt description expands the phenotypic spectrum of the syndrome and giv es new support to the hypothesized pleiotropic effects of the THCS gen e on connective tissue.