Pai syndrome: A further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum

S. Savasta, S. Chiapedi, S. Perrini, E. Tognato, L. Corsano, A. Chiara

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Introduction: 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. Discussion: 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.

Original languageEnglish
Pages (from-to)773-776
Number of pages4
JournalChild's Nervous System
Volume24
Issue number6
DOIs
Publication statusPublished - Jun 2008

Fingerprint

Agenesis of Corpus Callosum
Lipoma
Nasal Septum
Alveolar Process
X-Linked Genes
Skin
Inborn Genetic Diseases
Corpus Callosum
Cleft Lip
Cleft Palate
Lip
Polyps
Intellectual Disability
Central Nervous System
Incidence
Median cleft lip, corpus callosum, lipoma, and skin polyps
Bifid nose
Partial agenesis of corpus callosum

Keywords

  • Agenesis of corpus callosum
  • Cleft upper lip
  • Congenital nasal polyp
  • Lipoma of corpus callosum
  • Pai syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Pai syndrome : A further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. / Savasta, S.; Chiapedi, S.; Perrini, S.; Tognato, E.; Corsano, L.; Chiara, A.

In: Child's Nervous System, Vol. 24, No. 6, 06.2008, p. 773-776.

Research output: Contribution to journalArticle

Savasta, S. ; Chiapedi, S. ; Perrini, S. ; Tognato, E. ; Corsano, L. ; Chiara, A. / Pai syndrome : A further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. In: Child's Nervous System. 2008 ; Vol. 24, No. 6. pp. 773-776.
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