Multiple Congenital Skull Fractures as a Presentation of Ehlers-Danlos Syndrome Type VIIC

We describe a newborn infant with multiple congenial 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. (C) 2008 Wiley-Liss, Inc.