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Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype
Author(s) -
Chen Kelly M.,
Bird Lynne,
Barnes Pat,
Barth Richard,
Hudgins Louanne
Publication year - 2005
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.30526
Subject(s) - craniofacial , phenotype , daughter , anatomy , connective tissue , connective tissue disorder , medicine , biology , pathology , genetics , evolutionary biology , gene
Lateral meningoceles were first described by Lehman et al. [(1977); J Pediatr 90: 49–54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so‐called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue. © 2005 Wiley‐Liss, Inc.