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At least 469 records · Page 26Linked to original sources
PubMed1982

Spectrum of clinical and autopsy findings in trisomy 18 syndrome.

Clinical observations and autopsy findings in 16 cases of full 18 trisomy are presented. These patients were seen during the ten-year period of 1971-1981. In 14 cases, typical clinical features allowed a tentative diagnosis. However, two cases presented with an atypical phenotype: a Potter's syndrome associated with urethral atresia was superimposed, obscuring the more classical trisomy 18 stigmata. This combination is believed to be unique. Cardiovascular defects, varying in type and degree were invariably present. A very high incidence of major gastrointestinal and urogenital abnormalities was also noted. Histological abnormalities giving evidence of organ dysplasia, were observed in the central nervous system, pancreas, kidneys and ovaries.

Abnormalities, Multiple↗
PubMed2004

Esophageal atresia and other visceral anomalies in a modified Adriamycin rat model and their correlations with amniotic fluid volume variations.

The Adriamycin rat model (ARM) has been used to produce visceral malformations in fetuses to explain the mechanisms of foregut division. The models vary in the dosage of Adriamycin (ADR) and in the number of applications. Our study of a modified ARM using 2.2 mg/kg of ADR for 2 days only, intraperitoneally in pregnant rats, is presented. A total of 81 fetuses were obtained with this model from the ADR group, 74 (91%) alive. Uretero-hydronephrosis (UHN) was observed in 70 fetuses (95%), esophageal atresia (EA) in 68 (92%), duodenal atresia (DA) in 68 (92%), bladder hypoplasia (BH) in 67 (90%), plus other malformations. In evaluating amniotic fluid (AF) volume of the fetuses with EA with tracheo-esophageal fistula (TEF) (group I) and EA without TEF (group II), both associated with bilateral UHN when compared with the control group (group III), groups I and II showed higher AF volume in groups I and II than the control group (group III) did ( p=0.0001). In conclusion, ARM was adequate to produce EA and other visceral malformations. The use of ADR in a higher dosage for a shorter period of time produced better results than those presented in previous literature. The increase of AF volume obtained in fetuses presenting EA plus bilateral UHN strongly suggests, despite ureteral dilatation (urinary obstruction), that a malformed communication may exist between the urinary system and the amniotic cavity, permitting the existence of polyhydramnios that is due to digestive obstruction such as EA and DA.

Abnormalities, Drug-Induced↗
PubMed1989

Anorectal malformations and Down syndrome.

During 1980 to 1986, 89 children with Down syndrome and 42 with imperforate anus were diagnosed among 64,870 liveborn infants in the Jewish population of Jerusalem. Two of the children had both Down syndrome and imperforate anus. This indicates a high incidence of imperforate anus among children with Down syndrome (2.2%).

Abnormalities, Multiple↗
PubMed1992

Obstructive jaundice associated with polysplenia syndrome in an older child.

Polysplenia syndrome includes malrotation and various forms of heterotaxy. Associated with this and malrotation are extrahepatic biliary anomalies. Actual obstruction, other than in associated biliary atresia, is extremely rare, and rarer still in older children. An 11-year-old girl presented with obstructive jaundice, malrotation, and heterotaxy, which were found in association with common bile duct anomalies and intermittent common bile duct obstruction. This case illustrates that the differential diagnosis of obstructive jaundice, even in older children, should include congenital anomalies, and that biliary anomalies should be considered in cases of malrotation and heterotaxy.

Abnormalities, Multiple↗
PubMed2004

Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine.

BACKGROUND/PURPOSE: The aim of this study was to review the management of the gastrointestinal tract in cloacal exstrophy and to assess the effect of spinal dysraphism on nutritional outcome. METHODS: Twenty-two patients with cloacal exstrophy were reviewed retrospectively. Gastrointestinal and spinal anomalies were documented. The need for nutritional supplementation was recorded. Weights at 1 and 5 years of age were used to assess growth in childhood. RESULTS: Ten patients were treated initially with ileostomy, 7 with colostomy, and 3 without stoma. Two patients died before surgical reconstruction. Total parenteral nutrition (TPN) was utilized in 8 infants for a median of 10 days (range, 5 to 200). Three patients had complications with colostomies requiring conversion to ileostomy. Patients with an ileostomy required more nutritional supplementation compared with patients with a colostomy (50% v 28%). High-output stoma losses were more common in patients with an ileostomy (40% v 14%). Fourteen patients (67%) with spinal dysraphism had a higher incidence of failure to thrive in the first year of life (69% v 26%) and multiple episodes of enteritis (40% v 25%). Two neonates with duodenal atresia and small bowel deletion died within the first month of life. One patient with short bowel syndrome died of TPN-associated liver disease at 6 months of age. There were no other deaths. CONCLUSIONS: The gastrointestinal tract contributes significantly to the morbidity and mortality in cloacal exstrophy. Nutritional supplementation is more frequently required in patients with an ileostomy. Stoma complications were higher in those with a colostomy. Morbidity is high in patients with spinal dysraphism.

Abnormalities, Multiple↗
PubMed2003

Anorectal malformation with malrotation of gut.

Infants with anorectal anomaly have a high risk of having other congenital anomalies, but associated gastrointestinal tract anomalies are quite rare. Malrotation of gut is rarely associated with anorectal anomaly. We report two such cases of anorectal malformation with malrotation of gut. The high index of suspicion, diagnostic difficulty and surgical management with avoidance of appendicectomy in these neonates is discussed.

Abnormalities, Multiple↗
PubMed1996

Associated anomalies in patients with undescended testes.

Out of 252 patients with undescended testes admitted under our care between January 1984 and September 1992, 70 had bilateral undescended testes and 182 had unilateral undescended testes. Fifty-one (20 percent) patients had at least one associated anomaly. Thirteen (25 percent) patients had more than one anomaly. The anomalies included 20 patients with urogenital disorders, eight with gastrointestinal tract anomalies, seven with abdominal wall defects, and seven with cardiovascular anomalies. In addition there were 11 patients with intersexual disorders, six patients with autosomal disorders and six patients with well-recognized syndromes. We found that the incidence of intersexual disorders among the patients with undescended testes was 4.6 percent, but the incidence was much higher (55 percent) in the group of patients with both undescended testes and hypospadias. Patients with bilateral undescended testes had a much higher incidence (46 percent) of associated anomalies than those with unilateral undescended testes (10 percent).

Abnormalities, Multiple↗
PubMed1982

Asplenia and polysplenia syndrome.

This report described the morphological characteristics of seven cases of asplenia syndrome and three of polysplenia syndrome. Each syndrome has been characterized by a tendency for symmetric development of normally asymmetric organs, with varying degrees of cardiovascular anomalies. These latter anomalies are usually present in asplenia syndrome to a greater extent than in polysplenia syndrome. While, as observed in our material, the conotruncal anomalies were present more commonly in cases with asplenia, and absence of inferior vena cava with azygos continuation was seen specifically in all the cases with polysplenia. This evidence implied the presence of some pathogenetic distinction between the two syndromes.

Abnormalities, Multiple↗