Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Gudrun Göhlich-Ratmann, Anja Lackner, J. Schaper, T. Voit, Gabriele Gillessen-Kaesbach*

*Korrespondierende/r Autor/-in für diese Arbeit
14 Zitate (Scopus)

Abstract

Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature. (C) 2000 Wiley-Liss, Inc.

OriginalspracheEnglisch
ZeitschriftAmerican Journal of Medical Genetics
Jahrgang95
Ausgabenummer3
Seiten (von - bis)241-246
Seitenumfang6
ISSN0148-7299
DOIs
PublikationsstatusVeröffentlicht - 27.11.2000

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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