UNLABELLED An infant, showing peripheral cyanosis, was born after lower abdominal peripheral caesarian section of the pregnant women having TORCH positive test with the infection of Toxoplasma gondiiand Cytomegalovirus. She had three abortions prior to this pregnancy. Doppler echocardiography of the baby showed profound intracardiac defects. After birth, echocardiography was carried out for dia...

Ultrasonography (US) is a useful screening method for the diagnosis of developmental dysplasia of the hip (DDH) and congenital spinal anomalies in infants. In addition, US is a useful, noninvasive imaging modality for the diagnosis of transient synovitis in children. The early detection of DDH leads to a better prognosis without surgical intervention. Moreover, spinal US allows the detection of...

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia ...

purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. a...

A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic arch anomalies. These resulted in congestive failure but subsequent progressive dilatation of both great arteries and development of aortic regurgitation were associated with eventual cardiorespiratory failure and death at 11....

or respiratory compromise. However, on sternotomy incision, the infant experienced sudden treatable ventricular fibrillation, likely a result of his tenuous cardiac status. Complete repair of the total anomalous pulmonary venous return occurred. He was extubated on postoperative day three, and subsequent chest films showed significantly improved tracheal alignment. Further delineation of other ...

BACKGROUND Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. METHODS Case report and literature review. RESULTS A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small f...

CONTEXT Increasing concerns have been raised about the incidence of neurodevelopmental delay in children with noncardiac congenital anomalies (NCCA) requiring neonatal surgery. OBJECTIVE This study aimed to determine the incidence and potential risk factors for developmental delay after neonatal surgery for major NCCA. DATA SOURCES A systematic search in PubMed, Embase and the Cochrane Libr...

background: few cases of persistent hyperinsulinemic hypoglycemia of infancy (phhi) have been reported, so far. the main concern in the management of phhi is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. case report: in this report,...

The existence of a congenital urinary obstruction may be suggested when routine examination of the newborn infant reveals such signs as enlargement of one or both kidneys, distension of the bladder or slow, dribbling micturition. The paediatrician should also be alerted to the possibility of obstructive uropathy when there are present non-urological congenital anomalies which often secondarily ...