arachnodactyly/ataxia

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

4 matokeo

Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to

Arachnodactyly, aminoaciduria, congenital cataract, cerebellar ataxia and delayed developmental milestones--a new cerebro-oculo-renal syndrome?

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Ingia / Ingia

Pontocerebellar hypoplasia in two siblings with dysmorphic features.

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Ingia / Ingia

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

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.

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Ingia / Ingia

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes (ESACs) or small supernumerary chromosomes, which are often associated with developmental delay and malformations. We studied the prevalence of inv dup(15) in a nationwide screening

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Herbal & Natural Medicine

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