Pai syndrome

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.

Sacral dimple

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.


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PMID (PMCID)
22987662
 MIXED_SAMPLE Infant, Newborn
Atypical findings in three patients with Pai syndrome and literature review.
Lederer D, Wilson B, Lefesvre P, Poorten VV, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K.
Am J Med Genet A. 2012;158A(11):2899-904.
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.