Report of a family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a new finding?
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KünyeKilit, C., & Kilit, T. P. (2019). Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?. Arquivos brasileiros de cardiologia, 112(5), 594-596.
Craniofrontonasal syndrome (CFNS; OMIM# 304110) is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes. Alternative names are Craniofrontonasal Dysplasia and Craniofrontonasal Dysostosis. CFNS is a rare X-linked disorder caused by mutations in the ephrin-B1 gene (EFNB1).1 CFNS predominantly affects the head, face and limbs and characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, down slant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton.1 Phenotypic expression varies greatly amongst affected individuals. Paradoxical to other X-linked conditions, CFNS generally affects females more frequently and more severely than males.1,2 Cellular or metabolic interference due to X inactivation explains this situation. There is no accurate measurement of its birth frequency and the incidence values that were reported ranged from 1:100,000 to 1:120,000. CFNS is not diagnosed in males unless they are a member of a family known to have the condition or the father of a daughter with the condition. In females, physical characteristics play a supportive role in establishing the diagnosis but the diagnosis CFNS is determined by the presence of a mutation in the EFNB1 gene.
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