Publication: Hutchinson-Gilford progeria syndrome
Issued Date
1999-01-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-0032605327
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.82, No.1 (1999), 96-102
Suggested Citation
Wanee Wisuthsarewong, Suchitra Viravan Hutchinson-Gilford progeria syndrome. Journal of the Medical Association of Thailand. Vol.82, No.1 (1999), 96-102. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25713
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Title
Hutchinson-Gilford progeria syndrome
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Abstract
Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging. It is characterized by growth retardation and accelerated degenerative changes of cutaneous, musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown. The patients usually appear normal at birth. Typical manifestations develop gradually and are evident by the first or second year of life. They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation. prominent scalp veins, prominent eyes, protruding ears with absence of earlobes, faint midfacial cyanosis, delayed closure of fontanelles and sutures, delayed dentition, horse-riding stance, thin limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic nails and high-pitched voice. Laboratory investigations are unremarkable. Metabolic, endocrine, serum lipid and immunologic studies show no uniform abnormalities. Typical radiographs demonstrate evidence of resorption of the distal ends of clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies. In this report, a 3-year-old Thai girl with typical characteristics of Hutchinson-Gilford progeria syndrome is described.