Hutchinson–Gilford progeria syndrome: Review of the phenotype

@article{Hennekam2006HutchinsonGilfordPS,
  title={Hutchinson–Gilford progeria syndrome: Review of the phenotype},
  author={Raoul C.M. Hennekam},
  journal={American Journal of Medical Genetics Part A},
  year={2006},
  volume={140A}
}
  • R. Hennekam
  • Published 1 December 2006
  • Medicine
  • American Journal of Medical Genetics Part A
Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. [] Key Result Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years.
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
TLDR
The case of a patient who reached above-average age expectancy for children with HGPS in Latin America is described and the clinical and molecular characteristics of the patient are described and a short review of the limited available treatment options is made.
HUTCHINSON-GILFORD SYNDROME (PROGERIA): A REVIEW
TLDR
The main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis, while other organs appear to be unaffected.
Hutchinson-Gilford Progeria Syndrome
TLDR
The aging process in individuals with HGPS is said to be accelerated by about seven times the normal rate, which would result in a ten-year-old child having the respiratory, cardiovascular, and arthritic symptoms characteristic of a seventy- year-old adult.
Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.
TLDR
A case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene.
Case Report: Hutchinson-Gilford Progeria Syndrome.
TLDR
A 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis is reported.
Hutchinson-Gilford Progeria Syndrome: Case Report
TLDR
A 17-years-old male patient with diagnosis of Progeria sent to the clinic for dental treatments by genetic consultation from Department of Pediatric Endocrine of Istanbul Faculty of Medicine with features of highly suggestive HGPS is monitorized both clinically and radiographgically.
Hutchinson-Gilford progeria syndrome.
A REVIEW ON HUTCHINSON-GILFORD SYNDROME
TLDR
Progeria shows characteristic facial appearance including prominent eyes, thin nose with a beaked tip, thin lips, a small chin, and protruding ears, severe hardening of the arteries beginning in childhood.
Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case
TLDR
The patient is the fifth African and the fourth with classical mutation, first of Western Africa, and second of (sub‐Saharan) African black race and the recurrence of HGPS is low like the cause is neomutation or germinal mosaicism.
Hutchinson-Gilford progeria syndrome - A brief introduction
TLDR
The symptoms of progeria may include alopecia (hair loss), low body weight, decrease joint motility, facial appearance that are similar to old age person and accelerated cardiovascular disease.
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References

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HUTCHINSON-GILFORD PROGERIA SYNDROME: A PATHOLOGIC STUDY
TLDR
The pathologic changes noted at autopsy on a 20-year-old woman with classic features of Hutchinson-Gilford progeria syndrome are reported, including an increased urinary excretion of hyaluronic acid.
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
TLDR
The molecular basis of the disease in the patient was late and it took a longer time to develop full-blown HGPS, which allowed him to live about three fold longer than classical cases.
Lethal neonatal Hutchinson-Gilford progeria syndrome.
TLDR
Previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition are reported.
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TLDR
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Hutchinson-Gilford progeria syndrome in siblings
TLDR
The radiologic features of progeria are compared with those of other progeroid conditions: acrogeria, Werner's and Cockayne's syndromes to compare the classic physical and radiologic changes described in progeria.
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