PubMed1978
The report describes the case of a 7,9-year-old boy who seems to have clinically the same syndrome described by Ruvalcaba et al. in 1971 and uncertified till now. The propositus in characterized by severe mental retardation, peculiar facies, osseous dysplasia (including clinodactilism), urogenital and skin abnormalities, congenital heart disease (missing to the mentioned author's cases). In contrast with the normal karyotype of Ruvalcaba et al. cases, the boy shows a familial 13/14 Robertsonian translocation, karyotype 45,XY,-13,-14, t (13q14q). The boy's father, not entirely clinically investigated, shows apparently only clinodactilism, but cytogenetically the same chromosomal aberration. The mother is clinically and cytogenetically normal. The boy's grandmother (father's side) has had clinically clinodactilism and heart disease; her karyotype is unknown. The syndrome of the propositus presented in our study is identical clinically, but differs cytogenetically to the one described in "a new familial syndrome with osseous dysplasia and mental deficiency" by R. H. A. Ruvalcaba et al. It is not out of the question that the father's and boy's translocation should be balanced, irrespective of the morphological abnormalities and fortuitous associated with them the more so as to the same karyotype, the boy's and father's phenotype have few common features.