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There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). Herein, we present a newborn with an omphalocele, duplex external genitalia (with duplex labia minora and labia majora), duplex urethral orifices, duplex vaginal orifices, and duplex anal dimple with imperforate anus and rectovestibular fistula on both sides. Exploration revealed duplex appendix, colon duplication, duplex uterus (continuing with tuba and ovaries on both sides), duplex rectum, malrotation of the intestines, with the cecum located in the middle of the abdomen, defect in the intestinal mesentery, and internal herniation of the small intestines through this defect. The intestines were operatively reduced and the defect repaired., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.

A 5-day-old Simmental calf was referred to our department for atresia ani and postural abnormalities caused by skeletal deformities. The calf had a short and deviated tail and a bowed hind limb. The calf appeared like a male because of the prepuce and penis located just near the teats and the absence of female external genitalia. During the necropsy, a horseshoe kidney, single ureter that originated from the kidney, and bilateral uterine horns with one ovary each were detected. The ureter, blind-ended large intestine, and bilateral uterine horns were connected to a dilated cloaca having two sacs, which were filled with a yellowish brown viscous fluid admixed with meconium and urine. Skeletal deformities found included scoliosis, partial synostosis of vertebrae, deviation of rudimentary sacrum and coccygeal vertebrae, and narrowed pelvic cavity. This is the first report of an anomalous combination including urogenital, large intestinal, and skeletal deformities in cattle.

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels.

Acardiac twin syndrome is a rare complication affecting monozygotic twins, where one twin fails to develop normally and completely. In this report, we present an acardiac fetus that was seen for evaluation at 26 weeks of gestation. Initial routine ultrasound examination suggested anomalies. The first detailed ultrasound demonstrated a normal fetus with appropriate growth plus an acardiac twin with a hypoplastic lower limb with subcutaneous edema and intestine-like organ near it. The pregnancy was followed with serial ultrasonography and spontaneous delivery occurred at term. A normal infant was born, and after delivery of the placenta, at the chorionic plate of the placenta there was a sac with diminished fluid, containing some loops of the intestine. A thin cord of one vascular channel was attached to the common placenta. In our literature review, this type of acardiac fetus has not been reported previously., (Copyright 2008 S. Karger AG, Basel.)

Hereditary multiple atresia of the gastrointestinal tract is an extremely rare subgroup of intestinal atresia. The aim of this study was to report a new case, to review the literature, and to describe the unique features of this malformation. A computer-generated list of articles on this subject was obtained, and all articles relative to this malformation were reviewed. Thirty-five other well-documented cases were found in the literature. Hereditary multiple atresias have several unique features: (1) the abdominal x-ray shows signs of gastric or duodenal atresia combined with typical large rounded or oval homogeneous calcifications in the abdominal cavity, (2) intraoperatively widespread atresias (exclusively type I and II) extending mostly from stomach to rectum are found, (3) cystic dilatation of the bile ducts can be present in cases with both complete pyloric and duodenal or proximal jejunal atresia, (4) the pathogenesis is still speculative; a combined immunodeficiency should be excluded, and (5) a fatal outcome is the rule.

Due to the performed analysis of data from literature and the author's observations of the Taunse-Brock's syndrome a wide variability of phenotypic manifestations is shown, the diagnostic criteria of syndrome are determined, its autosomic-dominant inheritance with complete penetrance is confirmed.

A brother and sister with developmental delay, relative macrocephaly and agenesis of the corpus callosum are described. The brother also had unilateral cerebellar hypoplasia and malrotation of the large bowel. Published cases of familial agenesis of the corpus callosum are reviewed and the value of ultrasonography in demonstrating agenesis of the corpus callosum in the neonate is emphasised.

We report on an infant with a malformation syndrome who had a combination of partial duplication of 4q and 21q as the result of a maternal unbalanced translocation. She has duplication of the proximal portion of chromosome 21, without manifestation of the Down syndrome.

We report a case of covered exstrophy and sequestration of a segment of bowel on the surface of the abdomen, which is a rare variant of the exstrophic complex. The external genitalia and urinary continence were normal. Simple excision of the ectopic bowel was curative.

The authors call attention to the importance of directed clinical examination of the urinary secretion system in children with an abnormal development of the large intestine and anorectal zone. In 23.9% of cases the malformations of the large intestine were associated with anomalies in the development or organs of urinary excretion. The symptoms of associated abnormalities in the anorectal zone and urine excretion ducts are described. A scheme for the examination of such patients is proposed.