No abstract

(fig 2A, B). Radiographs showed craniofacial disproportion and severe dysostosis. The ilia were hypoplastic with a trident configuration of the acetabula, the metaphyseal end plates of the long bones, mainly the femora and tibiae, were irregular, and the diaphyses were thin (fig

The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene.

Ten affected males studied from four generations of a Colombian family with Dyggve‐Melchior‐Clausen (DMC) syndrome are described. The ages of the affected males varied from 13 to 50 years and they presented with typical clinical and radiological manifestations of the syndrome. The association of normal intelligence and a clear X‐linked recessive inheritance in this family is evidence of heterogeneity in the Dyggve‐Melchior‐Clausen syndrome. In agreement with previous reports for DMC dwarfism, this new form has normal mucopolysaccharide excretion.

Cytogenetic studies on lymphocytes from a girl aged 3 years and 10 months revealed revealed a ring chromosome 15. Several banding methods showed the r(15) chromosome not to have any apparent deletion of the long arm. The silver staining technique for nucleolar organizer regions showed an NOR positive region (band p12). In only a few cells was a chromosome 15 missing. The size of the r(15) was found to be constant. Comparison with 11 previous reported cases in the literature shows that the clinical manifestations in the different patients with ring chromosome 15 are constant although not clinically identifiable and it appears likely to attribute them to a significantly retarded intrauterine and postnatal growth instead of presumed deficiency in the long arm and mosaic configurations.