PURPOSE Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation,...

Introduction: Congenital gastrointestinal (GI) malformation occurs due to mal development of GI organs. The diagnosis is based on clinical exam and radiography. The aim of this study was to determine prevalence of gastrointestinal anomalies in Imam Reza hospital deliveries Mashhad, Iran. Materials and Methods: In retrospective descriptive study for one year since 1.8.1391 all deliveries in...

In 2014, a published study based on dissections and skeletal examinations noted that 19:50 Thoroughbred horses had a congenital malformation of the 6th cervical vertebra (C6). In addition, it was found that in those 19 Thoroughbred horses expressing a congenital malformation of C6, 9 displayed a concurrent congenital malformation of the 7th cervical vertebra (C7). In this study, 3 Thoroughbred ...

Chiari malformation is a congenital anomaly that primarily involves the downward displacement of the cerebellar tonsils through the foramen magnum and elongation of forth ventricle and lower brainstem. Patients with Chiari I (congenital or acquired) malformation are asymptomatic or may present with neurologic signs and symptoms. It is always a question of safety of neuraxial anesthesia in these...

Dandy-Walker Malformation (DWM) is a rare congenital anomaly of the posterior cranial fossa. Features DWM include hypoplasia cerebellar vermis, enlargement fossa, and cystic dilatation fourth ventricle. MRI modality to confirm diagnosis. Treatment usually symptomatic required when signs hydrocephalus develop. Rare cases asymptomatic diagnosed incidentally are reported in literature. We report c...

Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging.

The incidence of congenital cardiovascular malformation was studied in 246 children of 166 index patients who had been operated upon for this. Twelve children were affected (4 . 9%). More than half of these had the same malformation as the parent. The incidence of other extracardiac congenital abnormalities did not exceed that recorded in Hungary for the population in general.

OBJECTIVE To review the management and outcome of babies with antenatally diagnosed congenital cystic adenomatoid malformation. DESIGN Retrospective cohort review. SETTING Tertiary neonatal care unit at Queen Mary Hospital and antenatal diagnostic centre at Tsan Yuk Hospital. PATIENTS Consecutive patients with antenatally suspected congenital cystic adenomatoid malformation in their conce...

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.