Congenital anomalies that are diagnosed in at least 120,000 US infants every year are the leading cause of infant death and contribute to disability and pediatric hospitalizations. Several large-scale epidemiologic studies have provided substantial evidence of an association between congenital anomalies and cancer risk in children, suggesting potential underlying cancer-predisposing conditions ...

AIM To determine whether infants with isolated minor anomalies of the external ear are at increased risk of renal malformations. METHODS Consecutive infants with isolated minor anomalies of the external ear (preauricular skin tags, preauricular sinuses, ear pits, and misshapen pinnae) were offered renal ultrasonography by experienced sonographers over a 41 month period. The prevalence of rena...

OBJECTIVE Assessment of the joint and independent relationships of gestational weight gain and prepregnancy body mass index (BMI) on risk of infant mortality was performed. METHODS This study used Pennsylvania linked birth-infant death records (2003-2011) from infants without anomalies born to mothers with prepregnancy BMI categorized as underweight (n = 58,973), normal weight (n = 610,118), ...

BACKGROUND Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a comm...

OBJECTIVE To assess parental burden and grief one year after having a child with a congenital anomaly. METHOD Twenty-five couples completed the Impact on Family Scale (IFS) and 22 couples answered the Perinatal Grief Scale (PGS). In addition, 27 mothers completed the Functional Health Status Scale (FSII-R). RESULTS Mothers and fathers showed no significant differences in overall burden (IFS...

Unilateral pulmonary agenesis is a very rare developmental malformation that is often associated with other anomalies. It can be asymptomatic or present with respiratory symptoms. Our case is a female newborn infant who had been taken to the hospital suffering from difficulty in breathing at the first day of birth. The baby died at the age of three days due to respiratory failure. On autopsy ex...

We compared perinatal outcomes between live-born nonisolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Fetuses (n = 86) with omphalocele were identified between 1995 and 2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks' gestation, available fetal and/or neonatal karyotype, and a live-born infant (n = 46). Perinatal outcomes were compared in ...

Birth defects occur in nearly 5% of all live births and are the major cause of infant mortality and morbidity. Despite the recent progress in molecular and developmental biology, the underlying genetic etiology of most congenital anomalies remains unknown. Heterozygous deletion of the 22q11.2 locus results in the most common human genetic deletion syndrome, known as DiGeorge syndrome, and has s...

UNLABELLED We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement. Previously considered quite healthy, the child died suddenly and unexpectedly during sleep. The autopsy protocol included an in-depth anatomopathological examination of both the autonomic nervous system and the cardiac conduction system, and molecular analysis of...

This presentation focuses on the disorganized/disoriented (Group D) categories of infant, child, and adult attachment. The infant D category is assigned on the basis of interruptions and anomalies in organization and orientation observed during Ainsworth's strange situation procedure. In neurologically normal low-risk samples, D attachment is not substantially related to descriptions of infant ...