Abstract Background Classic bladder exstrophy is a complex, multi-system congenital malformation affecting formation of the genitourinary system, pelvis, and abdominal wall. Main body Historically children with this abnormality were consigned to poor outcomes quality life. Modern advancements in diagnosis management disorder have resulted low mortality rates shifted clinical focus toward optimi...

Dysphagia lusoria is the compression of esophagus caused by congenital vascular anomalies. usually develops in childhood, but also later life when aberrant vessels show atherosclerotic changes. Here we would like to present a case 64-year-old patient who suffers from increasing globus sensation and swallowing disorder.

Seizures are a common problem in neonates. Differential diagnoses include infection, trauma, hypoxia and congenital metabolic disorders. Among these, congenital metabolic disorder is less familiar to general pediatricians. We report two patients with nonketotic hyperglycinemia (NKH), a rare and lethal congenital metabolic disease. Transient hyperammonemia and transient hypouricemia, uncommon fe...

congenital dislocation of the knee (cdk) is a rare disorder. we report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a co...

Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigen...

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Noonan’s syndrome is a polymorphic disorder with some facial features, congenital heart defects, cryptorchidism, etc., and also associated autoimmune diseases, lymphatic dysplasias. Here we are reporting nine years old boy Noonan's who has hepatomegaly persistently raised hepatic enzymes, which remained unexplained.
 TAJ 2022; 35: No-1: 137-140

now-a-days truncus arteriosus has been known as “common arterial trunk” (cat) and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. environmental and genetic factors effects on incidence of cat and other conotruncal anomalies. the majority patients with cat and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parath...