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Journal of Child Neurology
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Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Embiya Dilber, MD

Department of Pediatrics

Fatma Müjgan Aynaci, MD

Department of Child Neurology

Ali Ahmetoglu, MD

Department of Radiology Faculty of Medicine Karadeniz Technical University Trabzon, Turkey

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 pontocerebellar hypoplasia. The clinical phenotype should be expanded, especially within type II, with the reports of additional cases. (J Child Neurol 2002;17:64-66).

Journal of Child Neurology, Vol. 17, No. 1, 64-66 (2002)
DOI: 10.1177/088307380201700119
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