Abstract REPORT OF A CASE A 6.5-year-old Arabic boy was referred to the genetics clinic at age 24 months for evaluation of dysmorphic facial features and recurrent upper respiratory tract infections. The patient had reached all developmental milestones without delay. He was currently in the first grade and exhibited no gross or fine motor handicaps. The patient's 4.5-year-old brother had the same syndrome.For age, the patient's height was less than the fifth percentile, his weight in the 75th percentile, and his head circumference in the 95th percentile. Multiple, ivory-colored papules (<0.5 cm) were observed over and between both scapulae (Figure 1). The patient also presented with dry, coarse, thickened skin and truncal hypertrichosis. Frontal bossing, large thickened eyebrows, a flat nasal bridge, and micrognathia were all noted. He had small permanent teeth and a large protruding tongue. His abdomen was protuberant and the liver span was 8 cm, consistent with References 1. Neufeld EF, Muenzer J. The mucopolysaccharide storage disease . In Scriver CR, Beaudet AV, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1565. 2. Young ID, Harper PS. Incidence of Hunter's syndrome . Hum Genet. 1982;60: 391-392.Crossref 3. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter's syndrome a Jewish disease? Hum Genet. 1980;56:221.Crossref 4. Muenzer J. Mucopolysaccharidoses . Adv Pediatr. 1986;33:269-286. 5. Mallory S, Krafchik B. Hunter syndrome (mucopolysaccharidosis) . Pediatr Dermatol. 1991;7:150. 6. Prystowsky S, Maumenee I, Freeman R, et al. A cutaneous marker in Hunter's syndrome . Arch Dermatol. 1977;113:602-605.Crossref 7. Spranger J, Cantz M, Gehler J. Mucopolysaccharidosis II (Hunter's disease) with corneal opacities . Eur J Pediatr. 1978;129:11-16.Crossref
Archives of Dermatology – American Medical Association
Published: Jan 1, 1995
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