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Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype

✍ Scribed by Williams, Marc S. ;Josephson, Kevin D.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 75 KB
Volume: 121A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20274

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✦ Synopsis

Abstract

An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed. © 2003 Wiley‐Liss, Inc.

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