S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...

Abstract Introduction Gorham-Scout Disease (GSD) is a rare skeletal disorder of unknown aetiology characterised by progressive osteolysis and excessive lymphovascular proliferation. Chylothorax severe life-threatening complication GSD that confers poor prognosis. Literature review reveals only one previous case successful surgical management for chylothorax secondary to GSD. Case presentation A...

Assimilation of atlas is a rare skeletal malformation causing nerve compression with high risk fatal. However, the genetic etiology assimilation AOA currently lacking. In this paper, whole-exome sequencing (WES) analysis was employed to study Chinese family having sporadic proband son but other healthy members. We identified novel variant in ciliary rootlet coiled-coil gene (NM_014675.5 (CROCC)...

Schizencephaly or split brain is an uncommon congenital disorder of cerebral cortical development, belonging to the group cell migration defects. It characterized by presence a cleft in extending from surface piamater ventricles. A 21-year-old primigravida at 19+2 weeks gestation was referred our Outpatient department with level-2 ultrasound done 18+2 suggestive schizencephaly. First trimester ...

Introduction Autism spectrum disorder (ASD) is a neurodevelopmental characterized by the deficit in communication and social interaction as well restricted repetitive interests behaviors. In addition to involvement of environmental component ASD, it currently established significant contribution genetic factors such us 16p13.11 duplication. We report case patient carrying this anomaly whom an A...

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature ...

Hox genes are critical regulators of skeletal development and Hox9-13 paralogs, specifically, are necessary for appendicular development along the proximal to distal axis. Loss of function of both Hoxa11 and Hoxd11 results in severe malformation of the forelimb zeugopod. In the radius and ulna of these mutants, chondrocyte development is perturbed, growth plates are not established, and skeleta...

A single intraperitoneal injection (0.6 ml/kg) of dimethoxyethyl phthalate (DMEP) was given to groups of Wistar strain rats on day 10, 11, 12, 13 or 14 of gestation. Control rats received 0.6 ml/kg of physiological saline intraperitoneally. In phthalate-treated rats, embryopathy was manifested by a high incidence (12-79%) of fetal deaths and fetal resorptions. Fetotoxic effects were expressed b...