A further patient with Pai syndrome with autosomal dominant inheritance?
We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.
Rudnik-Schöneborn
S
S
Institute for Human Genetics, University of Bonn, Germany.
Zerres
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001932:Brain Neoplasms / Q000151:congenital*; D002971:Cleft Lip / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D003337:Corpus Callosum; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008067:Lipoma / Q000151:congenital*; D008297:Male; D009298:Nasal Polyps / Q000151:congenital*; D012871:Skin Diseases / Q000151:congenital; D013577:Syndrome