Guadalajara camptodactyly syndrome type I. A corroborative family.
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.
Figuera
L E
LE
División de Genética, Centro Médico Nacional de Occidente, IMSS, Guadalajara, Jalisco, México.
Ramírez-Dueñas
M L
ML
García-Cruz
D
D
Villar
V
V
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome