Neuropathology of oral-facial-digital syndromes

J. Towfighi, Cheston Berlin, Roger Ladda, Elizabeth Frauenhoffer, R. A. Lehman

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

A 3-month-old female infant with oral-facial-digital syndrome (OFD-I) was found to have extensive malformations of the brain and spinal cord. Our review of other case reports indicated that the most common central nervous sytem malformations found in OFD-I include cerebral epithelial (ependymal) cysts, agenesis of the corpus callosum, cerebral micropolygyria, and hypoplasia or dysplasia of the cerebellum, pons, and medulla. It is suggested that the individuals with OFD-I syndrome should be carefully studied clinically and pathologically for complex nervous system anomalies.

Original languageEnglish (US)
Pages (from-to)642-646
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Volume109
Issue number7
StatePublished - Dec 4 1985

Fingerprint

Orofaciodigital Syndromes
Agenesis of Corpus Callosum
Nervous System Malformations
Pons
Cerebellum
Cysts
Spinal Cord
Brain
Neuropathology
Polymicrogyria

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Towfighi, J., Berlin, C., Ladda, R., Frauenhoffer, E., & Lehman, R. A. (1985). Neuropathology of oral-facial-digital syndromes. Archives of Pathology and Laboratory Medicine, 109(7), 642-646.
Towfighi, J. ; Berlin, Cheston ; Ladda, Roger ; Frauenhoffer, Elizabeth ; Lehman, R. A. / Neuropathology of oral-facial-digital syndromes. In: Archives of Pathology and Laboratory Medicine. 1985 ; Vol. 109, No. 7. pp. 642-646.
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Towfighi, J, Berlin, C, Ladda, R, Frauenhoffer, E & Lehman, RA 1985, 'Neuropathology of oral-facial-digital syndromes', Archives of Pathology and Laboratory Medicine, vol. 109, no. 7, pp. 642-646.

Neuropathology of oral-facial-digital syndromes. / Towfighi, J.; Berlin, Cheston; Ladda, Roger; Frauenhoffer, Elizabeth; Lehman, R. A.

In: Archives of Pathology and Laboratory Medicine, Vol. 109, No. 7, 04.12.1985, p. 642-646.

Research output: Contribution to journalArticle

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Towfighi J, Berlin C, Ladda R, Frauenhoffer E, Lehman RA. Neuropathology of oral-facial-digital syndromes. Archives of Pathology and Laboratory Medicine. 1985 Dec 4;109(7):642-646.