Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac a...

OBJECTIVE This study was designed to assess the usefulness of transperineal ultrasonography (US) for the determination of imperforate anus (IA) type. MATERIALS AND METHODS From January 2000 to December 2004, 46 of 193 patients with an IA underwent transperineal US prior to corrective surgery. Sonographic findings were reviewed to identify the presence of internal fistulas and to determine "di...

Anorectal malformations consist of a wide spectrum of conditions which can affect both sexes and involve the distal anus and rectum as well as the urinary and genital tracts. Patients have the best chance of a good functional outcome if the condition is diagnosed early and efficient anatomic repair is promptly instituted. This report describes a rare case of imperforate anus associated with bot...

Congenital abnormalities of the anus and rectum are among the rarer congenital anomalies, the incidence being variously given as one in five thousand to one in ten thousand live births (Dmytryk, 1945). Murphy (1947) in Philadelphia in his study of 890 dead children with diagnoses of gross congenital malformations and consequent assessment of their families with an addition of forty-five cases, ...

Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate be part a known syndrome as VACTREL CHARGE, associated other malformations congenital heart disease, lung malformations, musculoskeletal system anomalies, hereditary progressive arthro-ophthalmopathy. We report neonate PRS who...