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Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.
Am J Med Genet A 2011; 155A(7):1712-5AJ

Abstract

The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene.

Authors+Show Affiliations

Grupo de Neurociencias and Programa de Maestría en Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

21671373

Citation

Arboleda, Gonzalo, et al. "Neonatal Progeroid Syndrome (Wiedemann-Rautenstrauch Syndrome): Report of Three Affected Sibs." American Journal of Medical Genetics. Part A, vol. 155A, no. 7, 2011, pp. 1712-5.
Arboleda G, Morales LC, Quintero L, et al. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. Am J Med Genet A. 2011;155A(7):1712-5.
Arboleda, G., Morales, L. C., Quintero, L., & Arboleda, H. (2011). Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. American Journal of Medical Genetics. Part A, 155A(7), pp. 1712-5. doi:10.1002/ajmg.a.34019.
Arboleda G, et al. Neonatal Progeroid Syndrome (Wiedemann-Rautenstrauch Syndrome): Report of Three Affected Sibs. Am J Med Genet A. 2011;155A(7):1712-5. PubMed PMID: 21671373.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. AU - Arboleda,Gonzalo, AU - Morales,Luis Carlos, AU - Quintero,Luis, AU - Arboleda,Humberto, Y1 - 2011/06/10/ PY - 2010/08/02/received PY - 2011/03/03/accepted PY - 2011/6/15/entrez PY - 2011/6/15/pubmed PY - 2011/10/15/medline SP - 1712 EP - 5 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 7 N2 - The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/21671373/Neonatal_progeroid_syndrome__Wiedemann_Rautenstrauch_syndrome_:_report_of_three_affected_sibs_ L2 - https://doi.org/10.1002/ajmg.a.34019 DB - PRIME DP - Unbound Medicine ER -