Colin Wallis

X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

Heterozygous manifestations of Langer mesomelic dysplasia

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen‐year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia.

Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.

Five members of a four‐generation Mauritian family with ectrodactyly (split‐hand/split‐foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

Autosomal dominant antecubital pterygium: syndromic status substantiated

An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension and missing skin creases over the terminal inter‐phalangeal joints of the fingers. On the basis of our observations, we consider that this condition warrants acceptance as an autonomous AD entity.