Van Bogaert-Hozay Syndrome
General: Manifest after age 3 years; similar to Rubinstein- 313f56d Taybi syndrome; etiology unknown; affects both sexes.
Ocular: Hypertelorism; hypoplastic cilia and eyebrows; ptosis; esotropia; astigmatism; myopia.
Clinical: Facial dysplasia; broad nasal bridge and zygomatic arch; flat, wide nose; arched palate; skeletal anomalies with short, thick phalangeal joints; finger and toes appear infantile; flat nasal bridge; thickened cheeks; deformed ears; micrognathia.
Hozay J. Sur une Dystrophic Familiale Particuliere. Inhibition Precoce de la Croissance et Osteolyse Non Mutilante Acrales avec Dysmorphie Faciale. Rev Neural 1953; 89:245.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Roy FH, et al. Ocular manifestations of the Rubinstein-Taybi syndrome. Arch Ophthalmol 1968; 79:272.
van Bogaert L. Essai de Classement et d'lnterpretation de Quelques Acro-osteolyses Mutilantes et Non Mutilantes Actuellement Connues. Acta Neural Psychiatr Belg 1953; 53:90.
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