A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects

Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype

Neu-Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female

We describe a case of Neu-Laxova syndrome in a stillborn female. She was born at 41 weeks of gestation to consanguineous Italian parents, who had had 2 previous stillborn offspring. Pathological, radiological, and prenatal studies are reported

Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female

We describe a case of Neu-Laxova syndrome in a stillborn female. She was born at 41 weeks of gestation to consanguineous Italian parents, who had had 2 previous stillborn offspring. Pathological, radiological, and prenatal studies are reported

A further observation of corneal dystrophy and perceptive deafness in two siblings.

We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed

Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder

Item does not contain fulltextAbstract We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome