Article
Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.
American journal of medical genetics. Part A - 1 Oct 2009
Delgado-Luengo Wilmer Noé, Petty Elizabeth M, Solís-Añez Ernesto, Römel Orlando, Delgado-Luengo Juana, Hernández María Luisa, Morales-Machín Alisandra, Borjas-Fuentes Lisbeth, Zabala-Fernández William, González-Ferrer Sandra, Pineda-Bernal Lennie, Pardo-Govea Tatiana, Martínez-Basalo María Caridad, González Richard, Urdaneta Karelis, Cañizales Jenny, Fleitas-Cabello Herminia
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Aging, Premature
- Child
- Humans
- Male
- Phenotype
- Progeria
- Syndrome