Petty-Laxova-Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging

doi:10.1002/ajmg.a.32884

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Wiley InterScience

American Journal of Medical Genetics Part A

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Volume 149A Issue 10, Pages 2200 - 2205

Published Online: 1 Sep 2009

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Clinical Report

Petty-Laxova-Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging

Wilmer Noé Delgado-Luengo^{1 *}, Elizabeth M. Petty², Ernesto Solís-Añez¹, Orlando Römel³, Juana Delgado-Luengo¹, María Luisa Hernández⁴, Alisandra Morales-Machín¹, Lisbeth Borjas-Fuentes¹, William Zabala-Fernández¹, Sandra González-Ferrer¹, Lennie Pineda-Bernal¹, Tatiana Pardo-Govea¹, María Caridad Martínez-Basalo¹, Richard González¹, Karelis Urdaneta¹, Jenny Cañizales¹, Herminia Fleitas-Cabello¹

¹Medical Genetics Unit, Faculty of Medicine, University of Zulia, Zulia, Bolivarian Republic of Venezuela
²Department of Human Genetics, Ann Arbor, Michigan
³Department of Gynecology and Obstetrics, Médical Genetics Service, University Hospital of Coro, Coro, Bolivarian Republic of Venezuela
⁴Faculty of Medicine, Department of Morphological Sciences, University of Zulia, Zulia, Bolivarian Republic of Venezuela

email: Wilmer Noé Delgado-Luengo (wilmerdelgado16@cantv.net wilmerdelgado16@gmail.com)

^*Correspondence to Wilmer Noé Delgado-Luengo, Medical Genetics Unit, Research and Teaching Building, 1st Floor, Pediatrics Specialties Hospital Foundation of Maracaibo, Circunv. 2, Faculty of Medicine, University of Zulia, Zulia, Bolivarian Republic of Venezuela.

How to Cite this Article: Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML, Morales-Machín A, Borjas-Fuentes L, Zabala-Fernández W, González-Ferrer S, Pineda-Bernal L, Pardo-Govea T, Martínez-Basalo MC, González R, Urdaneta K, Cañizales J, Fleitas-Cabello H. 2009. Petty-Laxova-Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging. Am J Med Genet Part A 149A:2200-2205.
Chair of Histology and Embryology.

Keywords

Petty-Laxova-Wiedemann syndrome • progeroid

Abstract

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation,

progeroid

face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult. © 2009 Wiley-Liss, Inc.