title: Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.
abstract: BACKGROUND
  Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded.
  
  
  CONCLUSIONS
  A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.
authors: Department of Pediatrics, Fondazione Policlinico S.Matteo IRCCS, Univesity of Pavia, P.le Golgi, 2, 27100 Pavia, Italy. s.savasta@smatteo.pv.it
authors: S
authors: S
authors: Savasta
authors: S
authors: S
authors: Chiapedi
authors: S
authors: S
authors: Perrini
authors: E
authors: E
authors: Tognato
authors: L
authors: L
authors: Corsano
authors: A
authors: A
authors: Chiara
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D016543:Central Nervous System Neoplasms / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008067:Lipoma / Q000150:complications*; D008279:Magnetic Resonance Imaging; D009668:Nose Diseases / Q000150:complications*; D013577:Syndrome