Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia
نویسندگان
چکیده
منابع مشابه
Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings.
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive con...
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Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earl...
متن کاملFamilial congenital adrenal hypoplasia.
Congenital adrenal hypoplasia was first described by Sikl (1948). Other reports appeared, and Mitchell and Rhaney (1959) recorded the first occurrence in a male sibship and suggested a familial basis. Boyd and MacDonald (1960) reported the necropsy findings in another pair of brothers who died in the neonatal period. The following report presents two further pairs of brothers born in Scotland w...
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SOME TWO YEARS AGO we investigated a child with profound psychomotor retardation who had had an occipital meningoencephalocele removed at birth. Contrast studies were carried out which showed a large midline defect in the posterior fossa and absence of the vermis. At the time we disregarded the nurses’ comments about the child’s abnormal breathing. A year later, Dr. P. P. Demers referred this p...
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Congenital cerebellar hypoplasia and hydrocephalus is reported in 8 Jersey calves. The possible relationship between this entity and BVDMD virus is discussed.
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2008
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.1998.tb12347.x