Abstract
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.
Original language | English |
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Pages (from-to) | 39-41 |
Number of pages | 3 |
Journal | Clinical Dysmorphology |
Volume | 9 |
Issue number | 1 |
Publication status | Published - 2000 |
Keywords
- Abnormal hair
- Aplasia cutis
- Epibulbar dermoids
- Macrocephaly
- Mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy