title: Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.
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.
authors.affiliation: Medical Genetics Unit, Faculty of Medicine, University of Zulia, Zulia, Bolivarian Republic of Venezuela. wilmerdelgado16@cantv.net
authors.forename: Wilmer Noé
authors.initials: WN
authors.lastname: Delgado-Luengo
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Petty
authors.forename: Ernesto
authors.initials: E
authors.lastname: Solís-Añez
authors.forename: Orlando
authors.initials: O
authors.lastname: Römel
authors.forename: Juana
authors.initials: J
authors.lastname: Delgado-Luengo
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Hernández
authors.forename: Alisandra
authors.initials: A
authors.lastname: Morales-Machín
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Borjas-Fuentes
authors.forename: William
authors.initials: W
authors.lastname: Zabala-Fernández
authors.forename: Sandra
authors.initials: S
authors.lastname: González-Ferrer
authors.forename: Lennie
authors.initials: L
authors.lastname: Pineda-Bernal
authors.forename: Tatiana
authors.initials: T
authors.lastname: Pardo-Govea
authors.forename: María Caridad
authors.initials: MC
authors.lastname: Martínez-Basalo
authors.forename: Richard
authors.initials: R
authors.lastname: González
authors.forename: Karelis
authors.initials: K
authors.lastname: Urdaneta
authors.forename: Jenny
authors.initials: J
authors.lastname: Cañizales
authors.forename: Herminia
authors.initials: H
authors.lastname: Fleitas-Cabello
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D019588:Aging, Premature / Q000175:diagnosis* / Q000209:etiology; D002648:Child; D006801:Humans; D008297:Male; D010641:Phenotype; D011371:Progeria / Q000150:complications* / Q000175:diagnosis*; D013577:Syndrome