A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, als...

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency.  Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polym...

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X-linked recessive bulbospinal neuronopathy (X-BSN) is an adult-onset spinal and bulbar amyotrophy. Neurophysiologic studies demonstrate subclinical involvement of sensory nerves with diminished or absent sensory nerve action potientials and denervation changes, indicating the involvement of sensory neurons. We report the clinical features, findings of electrophysiologic study, and results of m...

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patien...

Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We ...

BACKGROUND Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful. METHODS Index cases were diagnosed with Alport syndrome ...

Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy severe X-linked recessive males. Although theoretically possible, very few cases of DMD associated with have been reported. We report an 8 year old girl who presented rare association mosaicism (45X/46XringX) dystrophy.

Anterior megalophthalmos is a developmental anomaly of the anterior ocular segment. This is an X-linked recessive disease and manifests as bilateral enlarged corneas, open iridocorneal angle, hypoplastic iris and dislocation and opacification of an apparently small lens. We have also observed obvious vitreoretinal degeneration in our patients. What may threaten visual acuity later is an op...