Phenotypic variability of Pai syndrome: report of two patients and review of the literature.
Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.
Vaccarella
F
F
Department of Pediatric Surgery, Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo, Ospedale Infantile, Spalto Marengo, Alessandria, Italy.
Pini Prato
A
A
Fasciolo
A
A
Pisano
M
M
Carlini
C
C
Seymandi
P L
PL
D000015:Abnormalities, Multiple / Q000601:surgery*; D001848:Bone Diseases, Developmental / Q000150:complications / Q000601:surgery*; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications / Q000601:surgery*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007742:Labial Frenum / Q000002:abnormalities / Q000601:surgery; D055171:Nasal Cartilages / Q000002:abnormalities* / Q000601:surgery; D009298:Nasal Polyps / Q000150:complications / Q000601:surgery*; D009300:Nasal Septum / Q000002:abnormalities* / Q000601:surgery; D009666:Nose / Q000002:abnormalities / Q000601:surgery; D013577:Syndrome; D016896:Treatment Outcome