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Year Number of Results
1999 2
2002 1
2005 2
2008 2
2010 1
2011 2
2016 1
2021 1
2024 0

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11 results

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Page 1
Hydrocephalus in children.
Rizvi R, Anjum Q. Rizvi R, et al. J Pak Med Assoc. 2005 Nov;55(11):502-7. J Pak Med Assoc. 2005. PMID: 16304873 Review.
The clinical features are increase in the size of head, with wide anterior fontanelle, prominent scalp veins, sun-setting eyes, optic nerve atrophy, nystagmus and increased muscle tone in children upto 2 years. ...
The clinical features are increase in the size of head, with wide anterior fontanelle, prominent scalp veins, sun-setti …
Hutchinson-Gilford progeria syndrome.
Wisuthsarewong W, Viravan S. Wisuthsarewong W, et al. J Med Assoc Thai. 1999 Jan;82(1):96-102. J Med Assoc Thai. 1999. PMID: 10087745
They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation, prominent
They have a remarkably similar physical appearance consisting of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplas …
A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI).
Pongbangli N, Pitipakorn K, Jai-Aue S, Sirijanchune P, Pongpittayut S, Wongcharoen W. Pongbangli N, et al. Am J Case Rep. 2021 Jan 8;22:e928969. doi: 10.12659/AJCR.928969. Am J Case Rep. 2021. PMID: 33414362 Free PMC article.
His skin had a generalized scleroderma-like lesion and hair loss with prominent scalp veins. His mental and cognitive functions were normal. ...
His skin had a generalized scleroderma-like lesion and hair loss with prominent scalp veins. His mental and cognitive f …
Hutchinson-Gilford progeria syndrome with G608G LMNA mutation.
Kim HK, Lee JY, Bae EJ, Oh PS, Park WI, Lee DS, Kim JI, Lee HJ. Kim HK, et al. J Korean Med Sci. 2011 Dec;26(12):1642-5. doi: 10.3346/jkms.2011.26.12.1642. Epub 2011 Nov 29. J Korean Med Sci. 2011. PMID: 22148005 Free PMC article.
A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. ...
A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp v
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Jay AM, et al. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612211
Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and lipoatrophy; in addition, neonatal teeth are often a distinctive finding. ...
Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and l …
Severe bone changes in a case of Hutchinson-Gilford syndrome.
de Paula Rodrigues GH, das Eiras Tâmega I, Duque G, Spinola Dias Neto V. de Paula Rodrigues GH, et al. Ann Genet. 2002 Jul-Sep;45(3):151-5. doi: 10.1016/s0003-3995(02)01119-x. Ann Genet. 2002. PMID: 12381448
All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arterio …
All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopeci …
Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature.
Dinleyici EC, Tekin N, Dinleyici M, Aksit MA. Dinleyici EC, et al. J Pediatr Endocrinol Metab. 2008 Jun;21(6):591-6. J Pediatr Endocrinol Metab. 2008. PMID: 18717246 Review.
Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent scalp veins
Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneou …
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.
Sevenants L, Wouters C, De Sandre-Giovannoli A, Devlieger H, Devriendt K, van den Oord JJ, Marien K, Lévy N, Morren MA. Sevenants L, et al. Eur J Pediatr. 2005 May;164(5):283-6. doi: 10.1007/s00431-005-1635-x. Epub 2005 Feb 22. Eur J Pediatr. 2005. PMID: 15726408
He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose an …
He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scal
11 results