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Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype
Author(s) -
Williams Marc S.,
Josephson Kevin 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.20274
Subject(s) - macrocephaly , craniofacial , spastic , hereditary spastic paraplegia , paraplegia , craniofacial abnormality , medicine , phenotype , pediatrics , biology , physical medicine and rehabilitation , cerebral palsy , genetics , psychiatry , spinal cord , gene
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.