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Patterson–Lowry rhizomelic dysplasia: Report of two new patients
Author(s) -
Franceschini Piergiorgio,
Licata D.,
Guala A.,
Ingrosso G.,
Di Cara G.,
Franceschini D.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20638
Subject(s) - coxa vara , phalanx , medicine , dysplasia , anatomy , osteochondrodysplasia , variable expression , femur , surgery , biology , genetics , gene
We report two new patients with the Patterson–Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment. © 2003 Wiley‐Liss, Inc.