The authors report a case of double-orifice mitral valve (DOMV) which showed mitral stenosis and mild insufficiency. An associated anomaly was secundum atrial septal defect. DOMV is an unusual congenital heart defect. The occurrence of this anomaly with or without secundum atrial septal defect is very rare. More often it is associated with other congenital malformations arising from atrioventri...

purpose: congenital corneal leukoma is rare with an incidence of 6/100000 and is one of the most important causes of amblyopia. here we report an unusual case of bilateral congenital elevated corneal leukoma. methods: we encountered a 13-day-old full term male newborn. ocular examination of both eyes revealed central elevated corneal leukomas with a narrow normal lucid interval to limbus. corne...

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

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,...

Although congenital complete heart block is well recognized and has been fully reviewed, congenital partial heart block appears to be much more unusual. Howevev, a survey shows that several such cases have been described in America, but we have found only four cases recorded from this country. Whipham (1915) reported two, and Fleming and Stevenson (1928) gave an account of an eight-year-old gir...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

The influence of congenital colour defects on a clinical computer test for equiluminous colour discrimination is studied. Differences in relative spectral sensitivity and changes in colour contrast discrimination are two distinct manifestations of the abnormal genes responsible for congenital red-green defects. The very simple and rapid method of the heterochromatic flicker brightness test acts...

Enalapril was used to treat five patients with pulmonary arterial hypertension secondary to congenital cardiopathy, three with ventricular septal defect, one with arterial septal defect, and one with patent ductus arteriosus. The dose of enalapril was 20 mg/day. All patients underwent pretreatment and posttreatment cardiac catheterization. It was concluded that enalapril may be a useful drug in...

OBJECTIVE To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. METHODS An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital ...

Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele...