Results 151 to 160 of about 1,306,775 (184)

Lethal neonatal Hutchinson‐Gilford progeria syndrome

American Journal of Medical Genetics, 1999
We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine
J I, Rodríguez, P, Pérez-Alonso, R, Funes, J, Pérez-Rodríguez   +3 more
openaire   +2 more sources

HUTCHINSON-GILFORD PROGERIA SYNDROME: A PATHOLOGIC STUDY

Fetal and Pediatric Pathology, 2002
Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance if unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia ...
Enid Gilbert-Barness
exaly   +5 more sources

Hutchinson-Gilford progeria syndrome

Drugs of the Future, 2006
The rare genetic autosomal dominant condition Hutchinson-Gilford progeria syndrome (HGPS) is characterized by a dramatic, rapid appearance of aging beginning in childhood. HGPS progression generates vascular disease, which generally leads to death during the teenage years.
null Davies, S.L., null Bozzo, J.
openaire   +1 more source

Cardiovascular manifestations of Hutchinson–Gilford progeria syndrome

Cardiology in the Young, 2022
AbstractCardiovascular complications are the most frequent cause of death in patients with the Hutchinson–Gilford progeria syndrome. However, due to its rarity, studying the course of cardiac abnormalities has been a challenge. The cardiovascular phenotype helps to provide greater insight into the natural history of these abnormalities.
Andreia Palma, Patrícia V. Silva, António Pires   +2 more
openaire   +2 more sources

Hutchinson–Gilford Progeria Syndrome

JAMA Dermatology
This case report describes a boy younger than 2 years with Hutchinson–Gilford progeria syndrome.
Yu-Ting, Tsai, Yi-Chien, Yang
openaire   +2 more sources

Hutchinson-Gilford Progeria Syndrome

2019
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome
Camacho-Cruz, Jhon, Dary Gutiérrez-Castañeda, Luz, Pulido, Daniela, Echeverri, Catalina, Bernal, Betty, Bautista, Luisa, Angarita, Lizeth, Villamil, Andrés, Guarin, Laura, Benavides, Vanessa, Lancheros, Natalia, Pardo, Juan, Bautista, Monica   +12 more
openaire   +2 more sources

Hyaluronuria in a Case of Progeria (Hutchinson‐Gilford Syndrome)

Journal of the American Geriatrics Society, 1978
ABSTRACT A classic case of progeria (Hutchinson‐Gilford syndrome) in a 9‐year‐old Japanese boy is presented. The characteristic clinical features in this patient were similar to those reported in the literature.
M, Tokunaga, E, Wakamatsu, K, Sato, S, Satake, K, Aoyama, K, Saito, M, Sugawara, Z, Yosizawa   +7 more
openaire   +2 more sources

Patient with unusual Hutchinson-Gilford syndrome (progeria)

Pediatric Neurology, 1994
A patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging.
S, Matsuo, Y, Takeuchi, S, Hayashi, A, Kinugasa, T, Sawada   +4 more
openaire   +2 more sources

Hutchinson-Gilford progeria syndrome.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1999
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
W, Wisuthsarewong, S, Viravan
openaire   +1 more source

Hutchinson-Gilford Progeria Syndrome

Southern Medical Journal, 1978
P, Runge, M S, Asnis, G W, Brumley, H, Grossman   +3 more
openaire   +2 more sources