TYPE 1 CROUZON SYNDROME WITH HEADACHE
[ N/A ]
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Nobel Ilac
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Crouzon syndrome defined by French neurosurgeon Crouzon in 1912. Crouzon syndrome which is characterized by craniosynostosis and dysmorphic facial appearance. This autosomal dominant disease has an incidence rate of 16/1,000,000. Craniosynostosis premature closure of cranial sutures, results in craniofacial anomalies. 4.5% of cases with craniosynostosis have Crouzon syndrome. Craniosynostosis can occur in utero or in the first three years of life. It rarely occurs later Phenotypically specific types of craniosynostosis have been linked to fibroblast growth factor receptor gene (FGFR) mutations. Clinical findings of Crouzon, Apert and Pfeifer syndromes are secondary to FGFR-2 gene mutations. In Crouzon syndrome brachycephaly, ptosis, exophthalmos, hypertelorism, acanthosis nigricans, rostrate type nose, ear and palate anomalies can occur of as a result of premature closure of cranial sutures. In this report we present a 5 years old male with headache. He has Crouzon Syndrome and beaten copper appearance in craniography.
Açıklama
Anahtar Kelimeler
Vertebral artery anomaly, aortic arch anomaly, magnetic resonance angiography
Kaynak
Nobel Medicus
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
9
Sayı
1
