Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: A case report

Marta Romanengo, Paolo Tortori-Donati, Maja Di Rocco

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.

Original languageEnglish
Pages (from-to)184-186
Number of pages3
JournalClinical Genetics
Volume52
Issue number3
Publication statusPublished - Sep 1997

Fingerprint

Dysarthria
Gait
Intellectual Disability
Cerebellum
Magnetic Resonance Spectroscopy
Parents
Brain

Keywords

  • Autosomal recessive inheritance
  • Posterior fossa malformation
  • Rhombencephalosynapsis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance : A case report. / Romanengo, Marta; Tortori-Donati, Paolo; Di Rocco, Maja.

In: Clinical Genetics, Vol. 52, No. 3, 09.1997, p. 184-186.

Research output: Contribution to journalArticle

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