Pontocerebellar hypoplasia in two siblings with dysmorphic features

Dilber E., Aynaci F., Ahmetoglu A.

JOURNAL OF CHILD NEUROLOGY, vol.17, no.1, pp.64-66, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 1
  • Publication Date: 2002
  • Doi Number: 10.1177/088307380201700119
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.64-66
  • Karadeniz Technical University Affiliated: No


We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and progressive spasticity and hyperreflexia of the lower limbs. Extrapyramidal dyskinesia and epilepsy, other main clinical features of pontocerebellar hypoplasia, are absent. The older sibling also has a high arched palate, triangular-shaped face, thoracolumbar scoliosis, pectus carinatum, kyphosis, cubitus valgus, arachnodactyly, long extremities, and a tall stature, which were not previously reported in association with p onto cerebellar hypoplasia. The clinical phenotype should be expanded, especially within type, 11, with the reports of additional cases.