Ibrahim A. Alorainy

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We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the(More)
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the(More)
PURPOSE To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. METHODS Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. RESULTS This 14(More)
OBJECTIVE To document the presence of incidental petrous apex cephalocele (PAC) in association with empty sella in a group of patients and propose an etiologic/pathologic relation between the two lesions. MATERIALS AND METHODS Retrospective review of our imaging archive for the period from October 2001 to October 2006 revealed five patients with PAC (four(More)
PURPOSE Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis is based on characteristic clinical features (e.g., hypotonia, episodic hyperpnea, developmental delay, progressive ataxia) and is confirmed by distinctive neuroradiologic findings(More)
Joubert syndrome is often missed clinically and radiologically if not enough attention is paid to its subtle and variable clinical presentation and the imaging findings in the posterior fossa. The purpose of this paper is to illustrate the brain stem and cerebellar imaging findings in Joubert syndrome. Awareness of the clinical and neuroimaging findings in(More)
OBJECTIVE To report on the clinical and biochemical features of patients who presented with stroke due to mitochondrial disorders amongst a prospective and retrospective cohort of Saudi children. METHODS Children, who presented with stroke, were evaluated at the Division of Pediatric Neurology, or admitted to King Khalid University Hospital, College of(More)
We report cases of two siblings with frontonasal dysplasia (FND) associated with multiple pericallosal lipomas in almost similar locations. In each sibling two separate curvilinear pericallosal lipomas were present-one in relation to the posterior part of the corpus callosum and the other in relation to the rostrum. To our knowledge, multiple pericallosal(More)
Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown.(More)