The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the b...

Unilateral opaque lung with ipsilateral mediastinal shift is an uncommon cause of respiratory distress in newborn which can be found on simple radiograph of the chest. Pulmonary agenesis is a rare cause of unilateral opaque lung in the newborn. Nearly 50% cases of pulmonary agenesis are associated with other congenital defects including cardiovascular, skeletal, gastrointestinal or genitourinar...

Joubert's syndrome is indeed a rarity in clinical and radiological practice with a myriad of accompanying anomalies. Figure 1. Clinical photos of the patient showing post-axial polydactyly in the upper and lower limbs (A, B) and broad flat nasal bridge (C). Herein we present a case of an eight-month-old female infant who presented with delayed milestones, nystagmus and post-axial polydactyly (F...

Poland’s syndrome is a rarely encountered congenital deficiency involving chest wall and breast deformity associated with hand anomalies. Chest wall reconstruction is necessary if the bony thorax is involved. We present the use of a homologous preserved costal cartilage for reconstruction of the chest wall in an infant with Poland’s syndrome, the use of which provided optimal chest wall stabili...

A male infant with multiple congenital anomalies and psychomotor retardation was found to have a translocation resulting in partial trisomy for the distal part of chromosome 3p. An older sister with similar clinical findings had an identical karyotype. Chromosome studies in the phenotypically normal parents revealed a balanced translocation in the mother involving chromosomes 3, 11, and 18. An ...

Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left antero...

This article is an updated review of the Pittsburgh Registry of Infant Multiplets including recruitment methods, data collection, and results of pilot studies conducted in this registry. The main goal of the registry is to study psychological development. The risk for behavior disorders including substance use disorders, as well as language development and dental health are among research targe...

A unique clinical case of a combination malformations the anterior abdominal wall (omphalocele large size) and malformation lymphatic system (congenital chyloperitoneum) is presented. Each these defects can lead to fatal outcome, them has greatly increased risk developing an unfavourable outcome. The use immunosuppressive therapy with Sirolimus used for first time during newborn period made it ...