Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.
Two sisters, aged 18 and 11 years, were found to have an intrauterine growth retardation-malformation syndrome which included camptodactyly as a typical sign. The overall analysis of the clinical and radiological findings permitted the individualization of a distinct entity. The family data suggested autosomal recessive inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001724:Birth Weight; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome