PMID: 11913577Mar 27, 2002Paper

Pontocerebellar hypoplasia in two siblings with dysmorphic features

Journal of Child Neurology
Embiya DilberAli Ahmetoglu

Abstract

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.

References

Sep 1, 1991·Archives of Disease in Childhood·S P HorslenB Winchester
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Jul 1, 1993·Pediatric Neurology·B A HagbergH Stibler
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Feb 1, 1961·Archives of Disease in Childhood·R M NORMAN

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Citations

Jun 16, 2012·Science Translational Medicine·Tracy J Dixon-SalazarJoseph G Gleeson
Feb 27, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maja SteinlinEugen Boltshauser
Apr 21, 2004·American Journal of Medical Genetics. Part a·Eugen Boltshauser
Feb 5, 2009·Developmental Medicine and Child Neurology·Marie-Eve Bolduc, Catherine Limperopoulos
Mar 3, 2004·Seminars in Pediatric Neurology·Laurence Walsh
Aug 16, 2015·Journal of Child Neurology·Josef FinstererAlejandra Daruich

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