Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.
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.
Delgado-Luengo
Wilmer Noé
WN
Medical Genetics Unit, Faculty of Medicine, University of Zulia, Zulia, Bolivarian Republic of Venezuela. wilmerdelgado16@cantv.net
Petty
Elizabeth M
EM
Solís-Añez
Ernesto
E
Römel
Orlando
O
Delgado-Luengo
Juana
J
Hernández
María Luisa
ML
Morales-Machín
Alisandra
A
Borjas-Fuentes
Lisbeth
L
Zabala-Fernández
William
W
González-Ferrer
Sandra
S
Pineda-Bernal
Lennie
L
Pardo-Govea
Tatiana
T
Martínez-Basalo
María Caridad
MC
González
Richard
R
Urdaneta
Karelis
K
Cañizales
Jenny
J
Fleitas-Cabello
Herminia
H
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