Abstract
Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.
Original language | English (US) |
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Pages (from-to) | 689-691 |
Number of pages | 3 |
Journal | Journal of Pediatric Hematology/Oncology |
Volume | 30 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2008 |
Keywords
- CNS tumors
- Cancer genetics
- Germ cell tumors
- Gorlin syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology