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Guadalajara camptodactyly syndrome type I. A corroborative family
Author(s) -
Figuera L. E.,
RamírezDueñas M. L.,
GarciaCruz D.,
Villar V.,
Cantú J. M.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb04418.x
Subject(s) - camptodactyly , dwarfism , medicine , brachydactyly , autosomal recessive inheritance , genetics , biology , pediatrics , anatomy , short stature , gene
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.