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At least 1,765 records · Page 98Linked to original sources
PubMed2003

Early prenatal diagnosis of familial intestinal polyatresia (FIPA) in a 19 weeks old fetus with sonographic and postmortem findings.

Familial intestinal polyatresia (FIPA) is a rare autosomal recessive disorder. In this article we present a new prenatally diagnosed case with FIPA from consanguineous parents with two affected daughters. The fourth pregnancy was diagnosed prenatally with FIPA at 18 weeks sonographically and these findings were confirmed by postmortem examination.

Abortion, Induced↗
PubMed1951

[Duodenal stenosis].

Explore the source record for details and available documents.

Constriction, Pathologic↗
PubMedDate not supplied

[Fryns syndrome--pre and postnatal diagnosis].

Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1991

[Experiences with congenital duodenal obstruction in the Sophia Kinderziekenhuis].

In the department of Paediatric Surgery, Sophia Children's Hospital, University Hospital, Rotterdam, we investigated whether the presence of Down's syndrome influenced the chances of survival of patients with a congenital duodenal obstruction. The retrospective study comprised all 109 patients admitted to the Sophia Children's Hospital with a congenital duodenal obstruction in the period 1971-1989. The additional presence of Down's syndrome itself did not influence the prognosis. The presence of other additional anomalies (especially cardiac anomalies) did influence the mortality rate. In the past these anomalies--which are present more frequently in association with Down's syndrome--were responsible for the higher mortality in children with both a congenital duodenal obstruction and Down's syndrome. We conclude that with the availability of the current medical (especially cardio-surgical) techniques, it may be expected that the mortality rate of duodenal obstruction will be the same in patients with and without Down's syndrome (10%). Only non-medical, non-technical arguments can be of overriding importance in the decision whether a newborn child suffering from both a duodenal obstruction and Down's syndrome will or will not be operated on.

Abnormalities, Multiple↗