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Dermatol Online J ; 26(7)2020 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-32898401

RESUMO

Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a challenging diagnosis. Herein, we describe three family members with nail-patella syndrome who presented with different features and varying severity. The opportunity to recognize this rare syndrome in three linear generations provided a unique insight into NPS, and a moment to appreciate the random and unpredictable clinical presentation.


Assuntos
Síndrome da Unha-Patela/genética , Adolescente , Adulto , Idoso , Família , Feminino , Humanos , Masculino , Unhas Malformadas/genética , Patela/anormalidades , Gravidade do Paciente
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