We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.

CARDIOVASCULAR DISORDERS aortic anomalies aortic aneurism aortic arch, anomalies aortic valvular, anomalies cardiac congenital defects cardiomegaly cardiopathy, congenital heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias mitral valve, defec...

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

Background: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life‐threatening conditions. Aim: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors assoc...

A 19 year old Mauritian male presented with episodic nausea, abdominal discomfort and jaundice. Unconjugated hyperbilirubinaemia and erythroid hyperplasia without dyserythropoiesis led to the diagnosis of primary shunt hyperbilirubinaemia. The similarity between congenital dyserythropoietic anaemia and this entity suggests that patients with these lesions can be considered within a single spect...

Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.

232 The term “developmental dysplasia or dislocation of the hip” (DDH) refers to the complete spectrum of abnormalities involving the growing hip, with varied expression from dysplasia to subluxation to dislocation of the hip joint. Unlike the traditional term “congenital dysplasia or dislocation of the hip,” the designation DDH has been officially endorsed by the American Academy of Orthopaedi...

BACKGROUND Annually, around 7.9 million children are born with birth defects and the contribution of congenital malformations to neonatal mortality is generally high. Congenital malformations in children born to mothers with hypertensive disorders during pregnancy has marginally been explored. METHODS Country incidence of congenital malformations was estimated using data on the 310 401 livebi...

C ongenital contractures can be divided into two groups: isolated contractures and multiple contractures (Fig. 1). Isolated congenital contractures affect only a single area of the body; the most common isolated contracture is congenital clubfoot, which occurs in one of every 500 live births. The term arthrogryposis is often used as shorthand to describe multiple congenital contractures that af...

Toxoplasmosis is a systemic infection caused by the protozoan parasite Toxoplasma gondii, which is transmitted through the ingestionofcontaminated food. Less frequently, toxoplasmosis is acquired by blood transfusion or an organ transplant. Congenital toxoplasmosis, which is caused by vertical transmission from the mother to the fetus, has an estimated prevalence of 20% of infected mothers tran...