- Full text PDF available (1)
The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is… (More)
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS),… (More)
OBJECTIVE Nocturnal enuresis is defined as involuntary emptying of the bladder in the absence of an organic cause in a child aged 5 years or older. Primary nocturnal enuresis (PNE) is the term used if the child has never been dry. Of several factors implicated in the etiology of PNE, genetic factors appear to be the strongest. In about 75% of affected… (More)
We report a child of consanguineous parents with microphthalmia and distal limb abnormalities. The association between eye and distal limb abnormalities have been reported previously. However, the eye involvement in the child in this report is less severe than the previously reported cases.
We report on a Palestinian family with three affected individuals exhibiting progeroid syndrome characterized by intrauterine growth retardation, a progeroid appearance, failure to thrive, short stature, and hypotonia. The progeroid features were evident at birth. All the affected members of this family have survived beyond the neonatal period and one of… (More)
We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may represent a previously undescribed… (More)
We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
We report three sibs with clinical and radiological features of otospondylomegaepiphyseal (OSMED) syndrome. The literature is reviewed.
We report two sibs with unbalanced translocations between chromosomes 2 and 11, both products of a paternal balanced reciprocal translocation involving bands 2q37.3 and 11q23.3
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense… (More)