Abdullah M Abomelha

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Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of α-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (CMD) and(More)
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral(More)
BACKGROUND Although intravenous immunoglobulin G (IVIG) therapy has been reported in hyperbilirubinemia of Rh hemolytic disease, its use in ABO hemolytic disease has been reported in only a few studies. In our institute we have observed that almost 30% of babies with hyperbilirubinemia due to ABO hemolytic disease required exchange transfusion. OBJECTIVE(More)
BACKGROUND Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype. CASE A 29-year-old woman decided to terminate her unwanted pregnancy because of(More)
In this retrospective study from Saudi Arabia, which is a rich and sunny country, we report our experience with 34 adolescents (20 females, 10 males) with rickets. The commonest cause was vitamin D deficiency (58.8%) followed by rickets due to low calcium intake (11.8%) and genetic causes, including possible 25-hydroxylase deficiency (8.8%). The etiology of(More)
The pattern of epilepsy and other convulsive disorders in 1,000 consecutive Saudi nationals is described. These disorders were common with a hospital frequency rate of 8 per 1,000. Men were more frequently affected than women and 60% of the patients were under 10 years old at the onset of their illness. The epilepsies were the commonest type (74%). Febrile(More)
We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of(More)
A four-year-old deaf girl with a history of convulsions developed polymorphous ventricular tachycardia during induction of anaesthesia. The arrhythmia reverted to sinus rhythm spontaneously. Post-anaesthetic ECG showed marked prolongation of the QTc interval (570-690 msec). Deafness and prolonged QTc interval in association with microcytic-hypochromic(More)