Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages w...

BACKGROUND Isolated congenital asplenia is a poorly understood and rare form of primary immunodeficiency, often associated with life-threatening infections. CASE REPORT We encountered a unique case of a 22-year-old asplenic male who presented with severe iron-deficiency anemia secondary to occult gastrointestinal bleeding since age 15. Our extensive work-up confirmed jejunal arteriovenous malfo...

A Univentricular Heart (UVH) is a rare congenital heart malformation. Prognosis without surgical intervention is considered to be poor and survival into the adulthood is unusual (1, 2). Its incidence being 1% to 4.3% of all congenital heart defects. Here we reported this rare congenital heart defect; hence it was worth reporting this interesting case.

the village of Connihatty, Zillah Kajshahye, and presents the following peculiar malforraities:? (a.) Spine.?An angulo-lateral curvature is seen occupying the whole of the dorsal region; the lateral deflexion is towards the right; all the ribs from the 3rd downwards participate in the curve, and are greatly bent at their angles. (b.) Hands (1) Right.?Fingers normal, but the metacarpal bone of t...

Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate be part a known syndrome as VACTREL CHARGE, associated other malformations congenital heart disease, lung malformations, musculoskeletal system anomalies, hereditary progressive arthro-ophthalmopathy. We report neonate PRS who...

Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS characterized by the presence of hypothyroid goiter combined with mild to moderate form SNHL, not presentable at birth, no obvious inner ear malformation. This major difference from Pendred in which SNHL congenital, severe profound nature, and associated malformation, mostly enlarge...

Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

Patients with congenital lung cysts are at increased risk of developing carcinoma, but the mechanisms concerned are not clear. The case of a young adult who developed a bronchioloalveolar carcinoma associated with a cystic congenital adenomatoid malformation is reported. The adjacent lung showed an unusual intra-alveolar hyperplasia of mucous cells. Two further cases of congenital adenomatoid m...

There have been amazing advances in embryology, teratology, reproductive biology, genetics, andepidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive 434SURAKSHA AGRAWAL Author’s Address: Prof. Suraksha Agrawal, Dep...