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Nestor-Guillermo progeria syndrome
Nestor-Guillermo progeria

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Short stature skeletal 100 % 21932319 2013-08-06
Facial dysmorphism skeletal 100 % 21932319 2013-08-06
Delayed closure of anterior fontanel skeletal 100 % 21932319 2013-08-06
Alopecia integumentary 100 % 21932319 2013-08-06
Micrognathia skeletal 100 % 21932319 2013-08-06
Decreased subcutaneous fat integumentary 100 % 21932319 2013-08-06
Skin pigmentation changes integumentary 100 % 21932319 2013-08-06
Hypoplastic or absent clavicles skeletal 100 % 21932319 2013-08-06
Thorax deformity skeletal 100 % 21932319 2013-08-06
Thin limbs skeletal 100 % 21932319 2013-08-06
Stiff joints skeletal 100 % 21932319 2013-08-06
Contracture skeletal 100 % 21932319 2013-08-06
Acro-osteolysis skeletal 100 % 21932319 2013-08-06
Osteoporosis skeletal 100 % 21932319 2013-08-06
Prominent scalp veins circulatory 100 % 21932319 2013-08-06
Scoliosis skeletal 100 % 21932319 2013-08-06
Nail dystrophy integumentary 100 % 21932319 2013-08-06
Weight loss multi 100 % 21932319 2013-08-06
Skin atrophy integumentary 100 % 21932319 2013-08-06
Hypoglycemia circulatory 50 % 21932319 2013-08-06

List of references:

Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Rubén Cabanillas, Juan Cadiñanos, José A F Villameytide, Mercedes Pérez, Jesús Longo, José M Richard, Rebeca Alvarez, Noelia S Durán, Rafael Illán, Daniel J González, Carlos López-Otín,

Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself.

American journal of medical genetics. Part A - Nov 2011

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