Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
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.
Bar-Yosef
Omer
O
Department of Neonatology, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. omerbary@gmail.com
Polak-Charcon
Sylvie
S
Hoffman
Chen
C
Feldman
Zeev P
ZP
Frydman
Moshe
M
Kuint
Jacob
J
D051722:ADAM Proteins / Q000235:genetics; D000071096:ADAMTS Proteins; D015193:Chorionic Villi Sampling; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics / Q000648:ultrastructure; D005260:Female; D024022:Fibrillar Collagens / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000151:congenital / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D047928:Premature Birth; D012867:Skin / Q000648:ultrastructure; D012887:Skull Fractures / Q000151:congenital* / Q000000981:diagnostic imaging / Q000209:etiology*; D014057:Tomography, X-Ray Computed
D024022:Fibrillar Collagens; D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C473773:ADAMTS20 protein, human