Hunter Syndrome.
- Author:
Young You KIM
1
;
Chul Min LEE
;
Tae Woon KIM
;
Young Hun CHUNG
Author Information
- Publication Type:Case Report
- MeSH: Animals; Beak; Cryptorchidism; Elbow; Genes, X-Linked; Glucose Tolerance Test; Hand; Hearing Loss; Hepatomegaly; Hirsutism; Hoof and Claw; Humans; Infant; Intellectual Disability; Lip; Macrocephaly; Male; Mastoid; Metacarpal Bones; Mouth; Mucopolysaccharidosis II*; Neck; Scalp; Sella Turcica; Shoulder; Skull; Tongue
- From:Journal of the Korean Pediatric Society 1980;23(2):153-157
- CountryRepublic of Korea
- Language:Korean
- Abstract: A 7-year and 5-month old boy with Hunter syndrome is presented. Progressive mental retardation with hearing loss, speech disturbance and growth retardation developed at 1 year of age. Physical findings included dull facial appearance, short stature, macrocephaly, short neck, non-tender scalp nodules, large tongue, thick lips with opened mouth, flat nasal bridge, hirsutism, hepatomegaly, umbilical hearnia, undescended testes, painful limitation of abduction at shoulders and of extension at elbows, and claw hands, but corneal clouding is absent. Characteristic radiologic findings are thickened calvarium, J-shaped sella turcica, poor pneumatization of mastoid, rather broad and short metacarpal bones with tapering in the proximal ends, retarded bone age, inferior beaking of T12 to L4 vertebral body and posterior displacement of L1 vertebral body. An oral glucose tolerance test is abnormal and family history shows the pattern of x-linked inheritance.
