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Apert and Pfeiffer Syndromes: A Report of Two Cases / 대한소아신경학회지
Journal of the Korean Child Neurology Society ; (4): 200-207, 2013.
Article Dans Coréen | WPRIM | ID: wpr-27418
ABSTRACT
Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes are Apert, Pfeiffer and Crouzon. Apert syndrome is one of the severe type of craniosynostosis syndromes which shows mutations in the Fibroblast growth factor receptor 2 (FGFR2) gene. Pfeiffer syndrome is also related with FGFR 1 or 2 gene mutation. We experienced two patients with craniosynostosis syndromes, Apert syndrome and Pfeiffer syndrome. The first baby was a in-born female baby presented with syndactly of the hands and feet and facial dysmorphism including shallow orbit with deep crease above eye brow. Apert syndrome was confirmed by the presence of a mutation in FGFR2. The second patient visited our developmental delay clinic due to developmental delay at seven month old age. He showed facial dysmorphism including cloverleaf-shaped skull, micrognathia, low set ears, low nasal bridge and high-arched palate, but there were no syndactly or limb anomalies. He was suspected of Pfeiffer syndrome, however his FGFR2 gene study was normal. These patients need multidisciplinary team management and regular follow up for visual, auditory, and cognitive development functions Pediatricians have important role on recognizing the patients with facial dysmorphism, planning to evaluate accompanying anomalies and making appropriate decisions about the timing of surgical management to minimize growth and cognitive impairments.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Orbite / Palais / Crâne / Acrocéphalosyndactylie / Études de suivi / Récepteur facteur croissance fibroblaste / Craniosynostoses / Développement foetal / Oreille / Récepteur FGFR2 Type d'étude: Étude observationnelle / Étude pronostique Limites du sujet: Femelle / Humains langue: Coréen Texte intégral: Journal of the Korean Child Neurology Society Année: 2013 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Orbite / Palais / Crâne / Acrocéphalosyndactylie / Études de suivi / Récepteur facteur croissance fibroblaste / Craniosynostoses / Développement foetal / Oreille / Récepteur FGFR2 Type d'étude: Étude observationnelle / Étude pronostique Limites du sujet: Femelle / Humains langue: Coréen Texte intégral: Journal of the Korean Child Neurology Society Année: 2013 Type: Article