Abstract
We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a "hieroglyphic appearance." The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N-terminal proteinase. All these findings confirmed the diagnosis of Ehlers-Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier.
Original language | English |
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Pages (from-to) | 3054-3057 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 146 |
Issue number | 23 |
DOIs | |
State | Published - 1 Dec 2008 |
Keywords
- Cerebral hemorrhage
- Collagen
- Ehlers-Danlos syndrome
- Premature birth
- Skull fractures