Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze.
نویسندگان
چکیده
A family with two sibs suffering from idiopathic infantile scoliosis associated with bilateral paralysis of conjugate gaze is reported. Although the parental consanguinity and the involvement of patients of both sexes in this family are suggestive of an autosomal recessive mode of inheritance, a dominant or multifactorial pattern remains a possibility.
منابع مشابه
An 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-...
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Horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging in a patient with HGGPS revealed the absence of major pontine crossing fiber tracts and no decussation of the superior cerebellar peduncles. Mutations in the RO...
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BACKGROUND Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem. CASE PRESENTATION We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. Diffusi...
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Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes....
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 6 شماره
صفحات -
تاریخ انتشار 1979