Pontocerebellar hypoplasia in two siblings with dysmorphic features.
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.
Dilber
Embiya
E
Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Aynaci
Fatma Müjgan
FM
Ahmetoglu
Ali
A
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002531:Cerebellum / Q000473:pathology; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011149:Pons / Q000473:pathology