A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
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SUBMITTER: Korberg I
PROVIDER: S-EPMC7201657 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg Izabella I Nowinski Daniel D Bondeson Marie-Louise ML Melin Malin M Kölby Lars L Stattin Eva-Lena EL
BMC medical genetics 20200505 1
<h4>Background</h4>ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course.<h4>Case presentation</h4>Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at som ...[more]
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