Al Gazali Hirschsprung syndrome

Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by… (More)

Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3… (More)

We report on a 16-year-old girl with mild-to-moderate learning difficulties, behaviorproblems, poor social adaptation, dysmorphic… (More)

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described… (More)

UNLABELLED The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized… (More)

PURPOSE We present our experience with dynamic contrast enhanced magnetic resonance urography for evaluation and treatment in… (More)

In Drosophila, the Dorsal protein establishes the embryonic dorso–ventral axis during development. Here we show that the… (More)

Cerebral ultrasound (US) imaging was performed as a screening procedure in approximately 3,600 neonates and infants over a period… (More)

Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of… (More)