Congenital horizontal gaze palsy and kyphoscoliosis.
نویسنده
چکیده
منابع مشابه
Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.
In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.
متن کاملMR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis.
We report the case of a child with horizontal gaze palsy, pendular nystagmus, and discrete thoracolumbar scoliosis. MR imaging of the brain depicted pons hypoplasia with an absence of the facial colliculi, hypoplasia, butterfly configuration of the medulla, and the presence of a deep midline pontine cleft (split pons sign). These MR imaging findings suggest familial horizontal gaze palsy with p...
متن کاملAn uncommon case of horizontal Gaze Palsy with scoliosis and associated brain-stem anomaly (HGPPS)
HGPPS is a rare congenital disorder resulting from cranial nuclear maldevelopment and characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze & convergence, progressive scoliosis developing in childhood and hypoplasia of dorsomedial brainstem structures associated with sagittal cleft of pons and medulla. We present a 19 years old male, with restriction of e...
متن کاملFamilial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-...
متن کاملIpsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct.
BACKGROUND AND PURPOSE horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder caused by mutation in the ROBO3 gene. It is characterized by absent horizontal eye movements with progressive scoliosis developing in childhood and adolescence. To our knowledge, both diffusion tensor imaging evaluation in HGPPS patients who present with stroke and truncating stop codon...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 4 شماره
صفحات -
تاریخ انتشار 1980