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Beare-Stevenson cutis gyrata syndrome
Relevant markers:
Cloverleaf shapeDepressed nasal bridgeHigh foreheadPolyhydramniosProptosis/prominent eyesHydrocephalusHypertelorismParents markers:Craniosynostosis
Incidence: - — 1/1000000 Male — Female Ratio: 1 — 1 Involved genes:
(gene — definition — chromosome)FGFR2 — FIBROBLAST GROWTH FACTOR RECEPTOR 2 — 10q26.13 Inheritance mode: AD Other online databases: OrphaNet, OMIM References: 2001 Prenat Diagn Case report Read on PubMed 2015 Am J Med Genet A Report of 2 cases Read on PubMed Login for more details.