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Atypical findings in three patients with Pai syndrome and literature review
Author(s) -
Lederer Damien,
Wilson Brian,
Lefesvre Pierre,
Poorten Vincent Vander,
Kirkham Nigel,
Mitra Dipayan,
VerellenDumoulin Christine,
Devriendt Koenraad
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35592
Subject(s) - medicine , congenital disorder , anatomy , lipoma , hypospadias , epilepsy , surgery , psychiatry
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty‐three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. © 2012 Wiley Periodicals, Inc.