Phenotypic variability of Pai syndrome: report of two patients and review of the literature
作者： F. Vaccarella , A. Pini Prato , A. Fasciolo , M. Pisano , C. Carlini
DOI: 10.1016/J.IJOM.2008.06.007
关键词: Phenotype 、 PAI SYNDROME 、 Frontonasal dysplasia 、 Rare syndrome 、 Facial skin 、 Pathology 、 Medicine 、 Central nervous system 、 Upper lip
摘要: Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It triad consisting midline cleft the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported literature. The authors describe clinical features, diagnostic workup treatment two patients. A review all literature presented to show phenotypic variability this syndrome.
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