Crouzon Syndrome with Hydrocephalus
نویسندگان
چکیده
منابع مشابه
Crouzon syndrome in association with acanthosis nigricans
Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.
متن کاملGrowth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus
Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation. He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance...
متن کاملChanges in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
Mutations in Fibroblast Growth Factor Receptor II (FGFR2) have been identified in patients with Crouzon and Pfeiffer syndrome, among which rare mutations of the intracellular tyrosine kinase domain. Correlating subtle phenotypes with each rare mutation is still in progress. In Necker-Enfants Malades Hospital, we identified three patients harboring three different pathogenic variants of the same...
متن کاملCrouzon Syndrome: a case report
Crouzon Syndrome is a rare genetic disorder resulting from a mutation of the Fibroblast Growth Factor Receptor 2 Gene. The main presenting feature of this syndrome is craniofacial synostosis but multiple physical dysmorphic features have been reported. There is a dearth of literature detailing the presentation of this syndrome in the foot and lower limb. Therefore, this case report will describ...
متن کامل"Spectaclesplasty" periorbital rotation advancement in Crouzon syndrome.
Facial deformity in Crouzon syndrome is characterized by exophthalmos, exorbitism, mild hypertelorism, and maxillary hypoplasia with a Class III occlusion. The Göteborg craniofacial unit corrects this deformity in selected patients by the 2-stage procedure of "spectaclesplasty" followed by a Le Fort I maxillary osteotomy at skeletal maturity. "Spectacles" is a reference to the bilateral circumf...
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ژورنال
عنوان ژورنال: International Journal of Medical Arts (Print)
سال: 2023
ISSN: ['2682-3780', '2636-4174']
DOI: https://doi.org/10.21608/ijma.2023.173207.1547