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Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay

✍ Scribed by Davee, Margaret A. ;Moore, Cynthia A. ;Bull, Marilyn J. ;Hodes, M. E.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 470 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440306

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✦ Synopsis

Absence of the kidneys and of the Miillerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Miillerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed.

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