Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC

Omer Bar-Yosef*, Sylvie Polak-Charcon, Chen Hoffman, Zeev P. Feldman, Moshe Frydman, Jacob Kuint

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

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 languageEnglish
Pages (from-to)3054-3057
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number23
DOIs
StatePublished - 1 Dec 2008

Keywords

  • Cerebral hemorrhage
  • Collagen
  • Ehlers-Danlos syndrome
  • Premature birth
  • Skull fractures

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