Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 An unidentified neonatal progeroid syndrome: follow-up report.

Literature DB >> 569581

An unidentified neonatal progeroid syndrome: follow-up report.

Abstract

Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 569581 DOI： 10.1007/bf00441901

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

6 in total

Review 1. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.

Authors: F L DeBusk
Journal: J Pediatr Date: 1972-04 Impact factor: 4.406

2. The premature ageing syndromes. Report of eight cases and description of a new entity named metageria.

Authors: J J Gilkes; D E Sharvill; R S Wells
Journal: Br J Dermatol Date: 1974-09 Impact factor: 9.302

3. [Some progeroid cases and their diagnostic classification].

Authors: H R Wiedemann
Journal: Z Kinderheilkd Date: 1969

4. Hallermann-Streiff syndrome.

Authors: Y Suzuki; T Fujii; Y Fukuyama
Journal: Dev Med Child Neurol Date: 1970-08 Impact factor: 5.449

5. Hallermann-Streiff syndrome. Clinical and prognostic considerations.

Authors: R W Steele; J W Bass
Journal: Am J Dis Child Date: 1970-11

6. Progeria: a cell culture study and clinical report of familial incidence.

Authors: T Rautenstrauch; F Snigula
Journal: Eur J Pediatr Date: 1977-01-26 Impact factor: 3.183

6 in total

15 in total

1. Radiographic findings in Wiedemann-Rautenstrauch syndrome.

Authors: M G Obregon; G L Bergami; A Giannotti; M C Digilio; Q Virgili; A M Guadagni; E Pompei; B Dallapiccola
Journal: Pediatr Radiol Date: 1992

2. A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

Authors: M B Delatycki; M A Cleary; A Bankier; P N McDougall; J S Ahluwalia; C W Chow; C M Cooke-Yarborough
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318

Review 3. Russell-Silver syndrome.

Authors: M A Patton
Journal: J Med Genet Date: 1988-08 Impact factor: 6.318

4. Wiedemann-Rautenstrauch syndrome.

Authors: H V Toriello
Journal: J Med Genet Date: 1990-04 Impact factor: 6.318

5. Severe Silver-Russell syndrome.

Authors: D Donnai; E Thompson; J Allanson; M Baraitser
Journal: J Med Genet Date: 1989-07 Impact factor: 6.318

6. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors: Jennifer A Wambach; Daniel J Wegner; Nivedita Patni; Martin Kircher; Marcia C Willing; Dustin Baldridge; Chao Xing; Anil K Agarwal; Samantha A Schrier Vergano; Chirag Patel; Dorothy K Grange; Amy Kenney; Tasnim Najaf; Deborah A Nickerson; Michael J Bamshad; F Sessions Cole; Abhimanyu Garg
Journal: Am J Hum Genet Date: 2018-11-07 Impact factor: 11.025

10. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Authors: Henian Cao; Robert A Hegele
Journal: J Hum Genet Date: 2003-04-03 Impact factor: 3.172