Pai syndrome: first reported case in Qatar and review of literature of previously published cases.
A full-term male baby born with severe complete median cleft lip and palate and multiple facial cutaneous polyps on the right nostril, left and right ears and angle of the mouth. Eye fundus examination revealed hypopigmented fundi, pigmented rings around both discs and hypopigmented maculae. Neurological, Cardiovascular and abdominal examination was unremarkable, with normal echocardiography and abdominal ultrasound. CT and MRI of the brain revealed hypogenesis of the corpus callosum and midline paracallosal lipomas and calcifications. Chromosomal study showed normal male 46, XY karyotype. This is the first reported case in Qatar and the second case in a patient of Arabian descent.
NICU Women's Hospital, Hamad Medical Corporation, Doha, Qatar.
Mohamed
M
Abdelmaaboud
Nuha
N
Nimeri
D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008067:Lipoma / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009298:Nasal Polyps / Q000175:diagnosis* / Q000235:genetics; D011780:Qatar; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics