| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3086405 | Pediatric Neurology | 2007 | 4 Pages |
Abstract
We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, and tremulous movements. Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation.
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Reem Saadeh, Emily C. Lisi, Denise A.S. Batista, Iain McIntosh, Julie E. Hoover-Fong,