Naslov
Ocular dermoid in Pai Syndrome: A review

Autori
Peter Tormey, Iva Bilic Cace, Michael A. Boyle

Izvornik
European Journal of Medical Genetics (1769-7212) 60 (2017); 217-219

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
ocular dermoid

Sažetak
Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA