Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity

László Sztriha, Johan G. Johansen

Research output: Contribution to journalReview article

15 Citations (Scopus)


We review 25 patients with a spectrum of hindbrain (cerebellum, pons, and medulla) malformations from a cohort of children with high parental consanguinity rate. Twenty-three of the 25 patients were born to consanguineous parents. The patients were classified in four groups. Eleven patients of 6 families had malformation of the hindbrain and midbrain with molar tooth sign (10 patients of 5 families with typical Joubert syndrome), 5 patients showed severe supratentorial anomalies in addition to the hindbrain malformations, 5 patients had pontocerebellar or cerebellar hypoplasia with anterior horn cell disease in the spinal cord (spinal muscular atrophy), and 4 patients showed malformations affecting predominantly the hindbrain without substantial involvement of other systems. A locus for Joubert syndrome was previously identified on chromosome 9q34.3 in two families, and a second locus on chromosome 11p12-q13.3 in another family. A third Joubert syndrome locus has been mapped at 6q23 and a mutation in the AHI1 gene at this site has been found recently in a further family from this cohort. Delineation of homogeneous subgroups of patients with hindbrain malformations and molecular genetic analysis of these groups may lead to identification of further loci, genes and mutations responsible for the malformations.

Original languageEnglish
Pages (from-to)134-141
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number2
Publication statusPublished - Jun 1 2005



  • Cerebellar hypoplasia
  • Hindbrain
  • Joubert syndrome
  • Molar tooth sign
  • Pontocerebellar hypoplasia
  • Posterior fossa
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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