Background: Congenital malformation (CM) is the major health problems in childhood because treatment and rehabilitation of children with CM is costly and complete recovery is usually impossible. For most of single primary defect the etiology is unknown. The aim of this study was to determine frequency of CM and its association with maternal age. Materials and Methods: This descriptive-observati...

Bleomycin is an established antineoplastic drug, but recently some attempts were made to inject it locally as a sclerosing agent in cases of congenital lymphatic malformations. We present the outcome of this treatment modality tried on 10 paediatric cases of whom 9 had such malformation in the cervical region and one in the parotid region. Seven of these cases had congenital lymphatic malformat...

the sturge-weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. this syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull ...

abstract horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. this malformation consists of fusion of both pulmonary lobes from the posterobasal segments. the fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horsesho...

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and ...

OBJECTIVE We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. STUDY DESIGN Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated fo...

The finding of eye abnormalities in patients with neurological disease is important for both clinical management and genetic research (Miller and Newman, 2004). In fact, if we exclude degenerative, vascular and inflammatory causes of both eye and neurological pathologies, in some cases we have a genetic origin of conditions, and it is well known that there is eye involvement in numerous genetic...

Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1,...

Congenital pouch colon is a condition of a shortened and pouch-like dilated colon and it is usually associated with an anorectal malformation. The pathogenesis and embryology of congenital pouch colon are not well understood, but dietary, environmental factors and familial inheritance may be contributing factors in this pathology. Most of the cases in the literature have been reported from Indi...