Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

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• 作者：Reza Yaghmai ; Arash Kimyai-Asadi ; Karoline Rostamiani ; Nina S. Heiss ; Annemarie Poustka ; Wafaa Eyaid ; Joann Bodurtha ; Hossein C. Nousari ; Ada Hamosh ; Aida Metzenberg
• 刊名：The Journal of Pediatrics
• 出版年：2000
• 出版时间：March 2000
• 年：2000
• 卷：136
• 期：3
• 页码：390-393
• 全文大小：69 K

文摘

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. (J Pediatr 2000;136:390-3)