Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalie...

In a new technique of palpation for renal anomalies in the newborn one hand supports the infant while the fingers of the other hand support the loin and the thumb explores the abdomen. In a series of 11 000 otherwise normal newborn children superficial palpation detected 11 renal anomalies, and deep palpation led to the discovery of another 42 anomalies. One of two other series in which palpati...

OBJECTIVE Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. METHODS The Iranian neonatal screening ...

The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is rev...

Infants of diabetic mothers (IDMs) can present with various symptoms and disorders. The neonatal nurse must be able to assess the infant for glucose control and other anomalies.

We describe a case of robot-assisted laparoscopic bilateral upper urinary tract surgery in a 4-month-old infant for complex bilateral upper urinary tract duplication anomalies.

Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the h...

Background and Objectives: Congenital anomalies are also known as birth defects and congenital disorders. Congenital anomalies occur in about 3-7% of the newborn babies worldwide. The purpose of this study was to determine the incidence of congenital anomalies and their determinants in hospitals affiliated with Isfahan University of Medical Sciences in 1395. Methods: This cross-sectional stu...

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mell...

Congenital longitudinal deficiency of the fibula (CLDF) is the most common congenital defect involving the long bones. There have been many different classifications developed for fibula deficiency. Achterman and Kalamchi's classification is most commonly used and will be described. Our case was complied with type II. Other anomalies includes cardiac anomalies, thrombocytopenia absent-radius (T...