Cockayne syndrome in three sisters with varying clinical presentation.

Complete Androgen Insensitivity Syndrome in Three Sisters

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene mutation is present in approximately 65% of cases. The present report describes a case of Cockayne syndrome in a Chinese family, with the patients c...

Sheehan’s syndrome presenting as psychosis: a rare clinical presentation

 Sheehan’s syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan’s syndrome is often diagnosed late as it evolves slowly (2,3). Re...

Report of a four-year-old boy with Progeria without total Alopecia

Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance is unclear, although autosomal dominant mutations have been proposed. The disease presentation is usually in infancy and early childhood with a characteristic phenotype of short stature, abnormal skin and nail, beaked nose, loss of subcutaneous f...

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters

OBJECTIVE The purpose of this study is to describe a case series of 4 sisters with discordant clinical phenotypes associated with fragile X-associated tremor/ataxia syndrome (FXTAS) that may be explained by varying CGG repeat sizes and activation ratios (ARs) (the ratio of cells carrying the normal fragile X mental retardation 1 [FMR1] allele on the active X chromosome). METHODS Four sisters ...