Dysplasia epiphysialis multiplex in three sisters.

Dysplasia epiphysialis punctata with ocular anomalies.

Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

In 1963-5, a study was made of the causes of severe visual handicap among 776 children in special schools in England and Wales (Fraser and Friedmann, 1967). During this study, it became apparent that a number of these blind children suffered from generalized skeletal dysplasias of poorly-defined types, often associated with subnormal height. The blindness was due usually, but not invariably, to...

Complete Androgen Insensitivity Syndrome in Three Sisters

Exome sequencing in a breast cancer family without BRCA mutation

PURPOSE We performed exome sequencing in a breast cancer family without BRCA mutations. MATERIALS AND METHODS A family that three sisters have a history of breast cancer was selected for analysis. There were no family members with breast cancer in the previous generation. Genetic testing for BRCA mutation was negative, even by the multiplex ligation-dependent probe amplification method. Two s...

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

BACKGROUND 46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal. METHODS DNA was extracted from three females with 46,XY sex reversal, two normal sisters, and both unaffected parents. All protein coding exons of the SRY and NR5A1 ge...