Blackfan-Diamond anemia is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and digital anomalies. Congenital dyserythropoietic anemias are a group of rare congenital anemias characterized by ineffective erythropoiesis. We report on two cases of congenital fetal anem...

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is rev...

A case of situs inversus with laevocardia and chamber inversion complicated by transposition and hypoplasia of the pulmonary artery and a patent ductus is published because of the rarity and complexity of this type of case. Advances in anaesthesiology and cardiac surgery demand that every case of congenital heart disease be subject to careful diagnostic appraisal in order that corrective surger...

holt-oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. they range from clinodactyly, absent or digitalised thumb, hypoplastic...

Background: The most common congenital abnormality of esophagus is esophageal atresia (EA) that can occur with or without tracheoesophageal fistula. Other associated anomalies are the leading cause of death in these patients. The present study aimed to evaluate the main complication, outcomes and cause of death in neonate with EA repaired in Amirkola Children’s Hospital (ACH), Iran within...

Mongolism has aroused widespread interest since the days of Langdon Down's pioneer work in 1866. Numerous hypotheses relating to its aetiology and mechanism have appeared, but none can be regarded as conclusive or final, further observations and research being necessary before a full understanding is possible. Of the many anomalies found in mongolism, affecting nearly every system, that of cong...

BACKGROUND A pre-anaesthestic echocardiogram (echo) is requested for most non-cardiac surgeries to identify possible cardiac structural anomalies. OBJECTIVE To describe the prevalence and spectrum of structural cardiac abnormalities seen in various non-cardiac conditions. METHODS We carried out a retrospective review of pre-anaesthetic echos performed over five years on children scheduled f...

Background and Objectives: Congenital anomalies are also known as birth defects and congenital disorders. Congenital anomalies occur in about 3-7% of the newborn babies worldwide. The purpose of this study was to determine the incidence of congenital anomalies and their determinants in hospitals affiliated with Isfahan University of Medical Sciences in 1395. Methods: This cross-sectional stu...