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.
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.
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.
Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
TLDR
The findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS, and novel oral-craniofacial phenotypes and quantification of previously reported features are presented.
Hutchinson-Gilford Progeria Syndrome
TLDR
Surprisingly, progerin has also been found in normal unaffected individuals and its level increases with age, suggesting a similar genetic mecha‐ nism in progeria as in normal physiological ageing.
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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.
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.
Roentgen findings in progeria.
TLDR
The typical roentgen manifestations of progeria as observed in 3 patients are described, with signs of rapid aging and a typical facial configuration with a beaked nose, receded chin, and baldness.
Hutchinson-Gilford progeria syndrome in a 45-year-old man.
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.
Patient with unusual Hutchinson-Gilford syndrome (progeria).
Progeria, a pathologic study.
Progressive Early Dermatologic Changes in Hutchinson‐Gilford Progeria Syndrome
TLDR
At 18 months of age, irregular pigmentary changes of the abdomen, early occipital aiopecia, superficial scalp veins, glyphic nasal tip, absent ear lobules, coarse hair that stands on end, crowded dentition with delayed tooth development, and dystrophic nails permitted the diagnosis of progeria.
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant
TLDR
Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time, and sclerodermatous changes in the infant can be the first manifestation.
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