Crouzon disease
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Crou·zon syn·drome
(krŭ-zŏn[h]'), [MIM*123500]craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on chromosome 10q. Crouzon syndrome with acanthosis nigricans is due to mutation in the fibroblast growth factor receptor 3 gene (FGFR3) on 4p.
Synonym(s): craniofacial dysostosis, Crouzon disease
Farlex Partner Medical Dictionary © Farlex 2012
Crouzon disease
(kroo-zon′) [Octave Crouzon, Fr. neurologist, 1874–1938]
An autosomal dominantly inherited congenital disease characterized by hypertelorism (widely spaced eyes), craniofacial dysostosis, exophthalmos, optic atrophy, and divergent squint. The disease is one of the craniosynostoses.
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Crouzon,
Octave, French physician, 1874-1938.Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla. Synonym(s): craniofacial dysostosis
Crouzon-Apert disease - Synonym(s): Apert syndrome
Medical Eponyms © Farlex 2012