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- Title
What Syndrome Is This?
- Authors
Pozo, Jesús del; Rodríguez, Ignacio; Martínez, Walter; Almagro, Manuel; Fonseca, Eduardo
- Abstract
The article presents a case report of brachmann de Lange syndrome (BDLS) in a 13-year-old girl. Her physical examination revealed a facies characterized by an antimongoloid palpebral cleft, and other characteristic facies of the syndrome, which include arched eyebrows, slight synophyrs, a prominent philtrum, and hypertrichosis of the forehead and posterior neck. In this patient, the facial appearance and the remaining clinical manifestations were compatible with a type II or mild BDLS.
- Subjects
DE Lange's syndrome; INTELLECTUAL disabilities; HYPERTRICHOSIS; GENETIC disorders; PALATE abnormalities; HUMAN abnormalities; CASE studies
- Publication
Pediatric Dermatology, 2007, Vol 24, Issue 4, p421
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/j.1525-1470.2007.00466.x