Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

Reza Yaghmai, Arash Kimyai-Asadi, Karoline Rostamiani, Nina S. Heiss, Annemarie Poustka, Wafaa Eyaid, Joann Bodurtha, Hossein C. Nousari, Ada Hamosh, Aida Metzenberg

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.

Original languageEnglish (US)
Pages (from-to)390-393
Number of pages4
JournalJournal of Pediatrics
Volume136
Issue number3
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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