Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
نویسندگان
چکیده
منابع مشابه
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplas...
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First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while th...
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BACKGROUND Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. CASE PRESENTATION We describe two unrelated cases of Renal-Hepatic-Pancreatic dysplasia syndrome in stillborn babies. The characteristic microscopic features were present in both the cases. The second case illustrates the unique a...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.5.409