Petty-Laxova-Wiedemann Progeroid Syndrome: Further Phenotypical Delineation and Confirmation of a Rare Syndrome of Premature Aging

被引：7

作者：

Noe Delgado-Luengo, Wilmer ^{[1
]}

Petty, Elizabeth M. ^{[2
]}

Solis-Anez, Ernesto ^{[1
]}

Roemel, Orlando ^{[3
]}

Delgado-Luengo, Juana ^{[1
]}

Luisa Hernandez, Maria ^{[4
]}

Morales-Machin, Alisandra ^{[1
]}

Borjas-Fuentes, Lisbeth ^{[1
]}

Zabala-Fernandez, William ^{[1
]}

Gonzalez-Ferrer, Sandra ^{[1
]}

Pineda-Bernal, Lennie ^{[1
]}

Pardo-Govea, Tatiana ^{[1
]}

Caridad Martinez-Basalo, Maria ^{[1
]}

Gonzalez, Richard ^{[1
]}

Urdaneta, Karelis ^{[1
]}

Canizales, Jenny ^{[1
]}

Fleitas-Cabello, Herminia ^{[1
]}

机构：

[1] Univ Zulia, Fac Med, Med Genet Unit, Zulia, Venezuela

[2] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

[3] Univ Hosp Coro, Med Genet Serv, Dept Gynecol & Obstet, Coro, Venezuela

[4] Univ Zulia, Fac Med, Dept Morphol Sci, Zulia, Venezuela

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 10期

关键词：

Petty-Laxova-Wiedemann syndrome; progeroid; HUTCHINSON-GILFORD-PROGERIA; DISORDER;

D O I：

10.1002/ajmg.a.32884

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (c) 2009 Wiley-Liss, Inc.

引用

页码：2200 / 2205

页数：6

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