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The neurologic findings in Taybi–Linder syndrome (MOPD I/III): Case report and review of the literature
Author(s) -
Pierce Melinda J.,
Morse Richard P.
Publication year - 2012
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.33958
Subject(s) - rubinstein–taybi syndrome , medicine , neuroimaging , neuroscience , genetic disorder , autosomal recessive inheritance , dysplasia , microcephaly , pediatrics , disease , psychology , pathology , dermatology , biology , genetics , gene
Taybi–Linder syndrome, also known as microcephalic osteodysplastic primordial dwarfism types I and III, is a rare disorder with presumed autosomal recessive inheritance. It is characterized by intrauterine growth retardation, distinctive bone dysplasia, and central nervous system malformations. We present two siblings with Taybi–Linder syndrome, with an emphasis on the neurological profile in this disease, which includes brain malformations, intractable epilepsy, sensory deficits, profound cognitive deficits, and neuroendocrine dysfunction. We also present distinctive correlative neuroimaging (MRI) and electroencephalographic (EEG) findings. Increased knowledge of the neurological profile of Taybi–Linder syndrome may be helpful for clinicians and genetic counselors managing these patients. © 2012 Wiley Periodicals, Inc.