Literature DB >> 2352262

Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.

J C Lambert1, M C Saint-Paul, F Bastiani, V Paquis, A M Saunieres.   

Abstract

The observation of two new cases in a previously reported family has brought about a change in the delineation of the syndrome initially defined. To the abnormalities already described (branchial dysplasia, mental deficiency, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the Alagille syndrome requires reconsideration.

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Year:  1990        PMID: 2352262      PMCID: PMC1017086          DOI: 10.1136/jmg.27.5.330

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  del(20p) with manifestations of arteriohepatic dysplasia.

Authors:  J L Byrne; M J Harrod; J M Friedman; P N Howard-Peebles
Journal:  Am J Med Genet       Date:  1986-08

2.  Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae.

Authors:  J C Lambert; N Ayraud; J Martin; R Mariani; M Ferrari; M Donzeau
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

Review 3.  The Alagille syndrome (arteriohepatic dysplasia).

Authors:  R F Mueller
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

4.  Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.

Authors:  D Alagille; M Odièvre; M Gautier; J P Dommergues
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

5.  Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

Authors:  D Alagille; A Estrada; M Hadchouel; M Gautier; M Odièvre; J P Dommergues
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

  5 in total

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