We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all ...

The case of a cyanotic infant with a rare combination of atypical pulmonary artery sling, imperforate anus, absence of the left kidney, interruption of the inferior vena cava, left side hemihypertrophy and diffuse-type pulmonary arteriovenous fistula is described. The clinical features were confusing, because of compounding abnormalities involving the respiratory tract and pulmonary circulation...

The imperforate hymen is one of the most frequent malformations of the female genital tract. The clinical presentation varies from the asymptomatic form to symptoms caused by the obstructive effect of the hematocolpometra such as primary amenorrhea, abdominal and lumbar pain, constipation, dysuria and urinary retention. We report the case of an adolescent whose only symptoms were acute urinary ...

A case of congenital ectopic scrotum in neonatal period is described. The ectopic scrotum was located in the right inguinal area and the left hemiscrotum was found in normal location and each hemi-scrotum contained their testis. The neonate also had imperforate anus as low anorectal malformation with spinal abnormalities (hemi-sacrum and hemi-pelvis), right knee flexion contracture and right cl...

IN THE BEGINNING the authors discuss the high type of imperforate anus because they say the low type presents "no real problem in achieving continence." They ment ion a report by Partridge and Gough 4 in which they found that "only half the survivors of high anomalies had adequate continence." They say that factors involved in continence are specific sensation of the rectum and anal canal, and ...

The rectum is the last live inches of large intestine continuous above with the pelvic colon and below with annal canal. Its upper twothirds are covered with peritoneum in front and sides, and in front only in its lower part. Above and anteriorly the rectum is related to rectovesical pouch in males or recto-uterine pouch in females. Below this it is in relation with a portion of the bladder, se...