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 2006
  • Biology, 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.Expand
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. Expand
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is an extremely rare monogenic disorder in which children display signs of premature, rapid aging very early in life (1). It is defined by theExpand
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. Expand
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. Expand
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. Expand
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. Expand
Hutchinson-Gilford progeria syndrome.
TLDR
This chapter will discuss both preclinical and clinical aspects of the genetics, pathobiology, clinical phenotype, clinical care, and treatment of HGPS, with special attention toward neurologic and cutaneous findings. Expand
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. Expand
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. Expand
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. Expand
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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. Expand
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. Expand
Severe bone changes in a case of Hutchinson-Gilford syndrome.
TLDR
The case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints is reported with a review of the current literature and a possible therapeutic approach. Expand
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. Expand
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. Expand
The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.
TLDR
Characteristic radiologic changes are persistent patency of anterior fontanelles, thin ribs, disappearance of distal clavicles and terminal phalanges, decrease in soft-tissue shadows, poor modeling of long bones, and coxa valga. Expand
Hutchinson-Gilford progeria syndrome in a 45-year-old man.
TLDR
This is the first patient with typical Hutchinson-Gilford progeria syndrome who had survived into the fourth decade, and some immunologic and endocrinologic abnormalities commonly seen in the elderly were present in this patient. Expand
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. Expand
Patient with unusual Hutchinson-Gilford syndrome (progeria).
TLDR
It is concluded that this 7-year-old boy has an incomplete case of Hutchinson-Gilford syndrome and that a correlation may exist between the clinical features and the degree of DNA-repair capacity. Expand
Progeria, a pathologic study.
TLDR
The syndrome is characterized by stunted growth associated with an appearance of premature senility and a normal mentality (the old wizened dwarf), and the patient usually dies in the second decade. Expand
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