Dubowitz Syndrome
Dubowitz Syndrome (Dwarfism-Eczema-Peculiar Facies)
General: Affects both sexes; congenital; may be autosomal recessive inheritance.
Ocular: Hypertelorism; lateral telecanthus; palpebral ptosis; short palpebral tissues.
Clinical: Eczema; sparse hair; cleft palate; hypospadia; microcephaly; low birth weight; mild mental retardation; characteristic face; short stature; spontaneous keloids; intrauterine growth retardation.
Berthold F, Fuhrmann W; Lampert F. Fatal aplastic anemia in a child with features of Dubowitz syndrome. Eur J Pediatr 1987; 146:605-607.
Dubowitz V. Familial low birth weight dwarfism with unusual facies and a skin eruption. J Med Genet 1969; 2:12-17.
Hansen KE, et al. Dubowitz syndrome: long-term follow-up of an original patient. Am J Med Genet 1995; 155:161-164.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes. Philadelphia: JB Lippincott, 1981:236-237.
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: http://www.ncbi.nlm.nih.gov/omim/.
Paradisi M, et al. Dubowitz syndrome with keloidal lesions. Clin Exp Dermatol 1994; 119:425-427.
Soyer AD, McConnell JR. Progressive scoliosis in Dubowitz syndrome. Spine 1995; 120:2335-2337.
Winter RM. Dubowitz syndrome. J Med Genet 1986; 23:11-13.
General: Affects both sexes; congenital; may be autosomal recessive inheritance.
Ocular: Hypertelorism; lateral telecanthus; palpebral ptosis; short palpebral tissues.
Clinical: Eczema; sparse hair; cleft palate; hypospadia; microcephaly; low birth weight; mild mental retardation; characteristic face; short stature; spontaneous keloids; intrauterine growth retardation.
Berthold F, Fuhrmann W; Lampert F. Fatal aplastic anemia in a child with features of Dubowitz syndrome. Eur J Pediatr 1987; 146:605-607.
Dubowitz V. Familial low birth weight dwarfism with unusual facies and a skin eruption. J Med Genet 1969; 2:12-17.
Hansen KE, et al. Dubowitz syndrome: long-term follow-up of an original patient. Am J Med Genet 1995; 155:161-164.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes. Philadelphia: JB Lippincott, 1981:236-237.
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: http://www.ncbi.nlm.nih.gov/omim/.
Paradisi M, et al. Dubowitz syndrome with keloidal lesions. Clin Exp Dermatol 1994; 119:425-427.
Soyer AD, McConnell JR. Progressive scoliosis in Dubowitz syndrome. Spine 1995; 120:2335-2337.
Winter RM. Dubowitz syndrome. J Med Genet 1986; 23:11-13.
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