Familial idiopathic scoliosis with conjugate gaze palsy is a rare autosomal recessive disorder characterized by progressive scoliosis and congenital absence of conjugate horizontal eye movement. In this article, two siblings who had scoliosis and conjugate gaze palsy are presented regarding clinical and laboratory findings.
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Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis.
Front Pediatr
September 2022
Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 () gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and investigate the corresponding gene mutations.
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Department of Biomedical Sciences and Human Oncology, University Hospital "A. Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disease characterized by the absence of horizontal gaze movements, progressive scoliosis, and typical brain, cerebellum, and medullary malformations. Here we describe a pediatric HGPPS case with overlapping epilepsy and learning difficulties. A 6-year-old girl was admitted to the University Hospital of Bari for the onset of a tonic-clonic seizure.
View Article and Find Full Text PDFHorizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins.
J Binocul Vis Ocul Motil
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Serviço de Oftalmologia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal.
Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence.
View Article and Find Full Text PDFCompound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review.
J Pediatr Genet
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Department of Pediatrics, Division of Child Neurology, Kocaeli Universitesi, Kocaeli, Turkey.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations of the gene that disrupts the midline crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. We present two siblings, 5-year-old and 2-year-old boys with HGPPS, from non-consanguineous parents.
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Department of Orthopaedic Surgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, No. 2000 Jiangyue Road, Shanghai, 200127, China.
Chordoma is a rare bone malignancy with a high rate of local recurrence and distant metastasis. Although DEP domain-containing protein 1B (DEPDC1B) is implicated in a variety of malignancies, its relationship with chordoma is unclear. In this study, the biological role and molecular mechanism of DEPDC1B in chordoma were explored.
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