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

Authors


  • 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.

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.

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