Pseudoprogeria Syndrome
General: Rare; autosomal recessive; absent eyebrows and eyelashes with mental retardation.
Ocular: Glaucoma; absence of eyelashes and eyebrows.
Clinical: Progressive spastic quadriplegia; microcephaly; small, beaked nose; cervical spinal cyst; occipital cranium bifidum occultum; mental retardation.
Hall BD, et al. Pseudoprogeria-Hallerman-Streiff (PHS) syndrome. Birth Defects 1974; 10:137-l46.
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/.
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