Abstract
The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.
Original language | English |
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Pages (from-to) | 241-244 |
Number of pages | 4 |
Journal | CLINICAL DYSMORPHOLOGY |
Volume | 12 |
Issue number | 4 |
DOIs | |
Publication status | Published - Oct 2003 |
ASJC Scopus subject areas
- Anatomy
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health