Published Date: January 1, 1993

Full Text Article

Guadalajara camptodactyly syndrome type I. A corroborative family


Authors: L E Figuera, M L Ramírez-Dueñas, D García-Cruz, V Villar, J M Cantú


Clin Genet. 1993 Jan;43(1):11-5. doi: 10.1111/j.1399-0004.1993.tb04418.x.

ABSTRACT

Three sibs, two girls aged 18 and 9 years, and a 7-year-old boy, were found to have Guadalajara camptodactyly syndrome type I (GCSI). They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly and skeletal anomalies. Comparison with other camptodactyly syndromes led to the conclusion that the patients had the same disorder as the two first reported patients with GCSI. The clinical and radiological concordance in the five patients permits further delineation of GCSI and corroboration of its autosomal recessive inheritance.

PMID: 7681735DOI: 10.1111/j.1399-0004.1993.tb04418.x