Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.
We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.
Franceschini
P
P
Istituto di Discipline Pediatriche, Università di Torino, Italy.
Vardeu
M P
MP
Signorile
F
F
Testa
A
A
Guala
A
A
Franceschini
D
D
Dalforno
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D003240:Connective Tissue Diseases / Q000235:genetics*; D005146:Facial Asymmetry; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D013577:Syndrome