BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SG...

Oligohydramnios developing early in pregnancy is less common, and the fetal outcomes are usually poor. This is because prolonged decrease in amniotic fluid may cause compression sequences, such as pulmonary hypoplasia, muscle hypotrophy or joint constriction. Early-onset oligohydramnios may be caused by preterm premature rupture of membranes (pPROM) or decreased secretion of amniotic fluid. Ear...

The dismal outlook for patients with pulmonary atresia with intact ventricular septum may be related to associated right ventricular hypoplasia. Study of 32 autopsy specimens and 46 angiocardiograms of neonates with this lesion suggested that the cavitary hypoplasia was related to massive hypertrophy of the right ventricular wall. This hypertrophy was sufficient to obliterate the trabecular and...

Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment ...

We present a rare case of congenital cystic adenomatoid malformation (CCAM) type III (mycrocystic) in young, 19 years old primigravida. Diagnosis has been accomplished by ultrasound examination in 26th week of gestation. Hyperechogenic, mycrocystic mass was found in left pulmonary lobe with contra lateral displacement of mediastinum, hypoplasia of the right lung and extensive polyhydramnios. Pr...

Bronchial compression due to a dilated pulmonary artery is a troublesome problem in the surgical management of infants or children with congenital heart disease. We experienced an infantile case of ventricular septal defect and prolonged respiratory insufficiency caused by right bronchial compression and left pulmonary hypoplasia. Anterior translocation of the dilated right pulmonary artery and...

DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in sit...