Clinical Dysmorphology 2000-Jan
New clinical findings in oculo-ectodermal syndrome.
Перакладаць артыкулы могуць толькі зарэгістраваныя карыстальнікі
Увайсці / Зарэгістравацца
Спасылка захоўваецца ў буферы абмену
Ключавыя словы
Рэферат
We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.