The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.

Abstract

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.

• Authors: Melinda J Pierce, Richard P Morse
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 3 Pg. 606-10 (Mar 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22302400 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Dwarfism (physiopathology)
• Female
• Fetal Growth Retardation (physiopathology)
• Humans
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Microcephaly (physiopathology)
• Osteochondrodysplasias (physiopathology)
• Siblings