A premature female twin (33-week gestation), weighing at birth 1935 g, remained hospitalized for one month due to the diagnosis of atrial septal defect (ASD) + ventricular septal defect (VSD) + persistence of ductus arteriosus (PDA). The patient gained less weight than the average children, but maintained full and similar activity, receiving furosemide and captopril, up to the age of 3 years, w...

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 ...

background: congenital heart disease (chd) is the most common congenital anomaly in newborns. this study was performed to determine the live birth incidence of chd by ethnicity and sex in gorgan, northern iran. methods: in this longitudinal, hospital-based study, 18162 live births in dezyani hospital in gorgan, north of iran, were screened for chd, from 2007 through 2009. clinical examination, ...

Pharyngeal teratomas are rare. We present a mature solid teratoma (so called “hairypolyp”) involving naso- and oro- pharynx in a female infant who presented with a gradually enlarging mass at the roof of the mouth since birth. The pharyngeal mass was protruding into the mouth through a palatine defect pr...

Cardiac surgery in neonates with congenital heart disease has progressed dramatically in the past three decades. However, low-birth-weight neonates with congenital heart disease continue to challenge the intellectual and technical skills of healthcare professionals. We present a case of a low-birth-weight neonate with pulmonary atresia and a ventricular septal defect, in whom palliation was ach...

A family is described with congenital hydrocephalus occurring in two pregnancies following the birth of a child with a neural tube defect (NTD). Prenatal diagnosis of hydrocephalus at mid-gestation was achieved by ultrasonography. The increased frequency of hydrocephalus among sibs of probands with a NTD and vice versa suggests that, following the birth of a child with either malformations, sub...

Background Approximately 6.3 million live births and fetal deaths occurred during the ascertainment period in the California Birth Defects Monitoring Program registry. American-Indian and non-Hispanic white women delivered 40,268 and 2,044,118 births, respectively. While much information has been published about non-Hispanic white infants, little is known regarding the risks of birth defects am...

Objective To assess causation and clinical presentation of major birth defects.Design Population based case cohort.Setting Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah's population based surveillance system. All records underwent clinical re-review.Participants 5504 cases among 270 878 births (prevalence 2.03%), excluding mild isolated conditions (...

The pathogenesis of most cases of syringomyelia remains obscure although a modification of the hydrodynamic theory of Gardner allows a logical surgical approach to treatment. Data are presented confirming a high incidence of traumatic birth in patients with syringomyelia who have a Chiari malformation or basal arachnoiditis, but demonstrating no increase in traumatic birth in patients with the ...

BACKGROUND AND OBJECTIVES Children with disabilities are at an increased risk for maltreatment. However, the risk of maltreatment is unknown for children with specific types of birth defects. This study was conducted to determine whether the risk and predictors of maltreatment differ between children with and without 3 birth defects: Down syndrome, cleft lip with/without cleft palate, and spina...