KrankheitenChemikalien und ArzneistoffeMedizintechnikBiologie
De-Lange-SyndromFaciesEktromelieChromosomale Proteine, Nicht-Histon-HüftkontrakturChondroitin Sulfate ProteoglycansPhenotypeZellzyklusproteineProteineMutation

Temporal bone CT findings in Cornelia de Lange syndrome. (25/85)

BACKGROUND AND PURPOSE: Cornelia de Lange syndrome is a rare developmental malformation syndrome with a high prevalence of hearing impairment. The purposes of this study were to describe the characteristic temporal bone CT findings in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients. MATERIALS AND METHODS: Ten children (6 girls and 4 boys; mean age, 42.0 months) who were clinically diagnosed with Cornelia de Lange syndrome (classic, n = 5; mild form, n = 5) were enrolled. Temporal bone CT was prospectively performed, and 32 aspects of each temporal bone CT were analyzed, 21 by direct measurement and 11 by visual inspection. Twenty age-matched children (n = 20 ears) with normal temporal bone CT scans served as a control group. Audiologic tests were also performed on all patients. RESULTS: Characteristic temporal bone CT findings of Cornelia de Lange syndrome were external auditory canal stenosis, soft-tissue opacification of the hypoplastic tympanomastoid cavity, dysmorphic ossicle, hypoplastic cochlea, and dysplastic vestibule, all of which were more prevalent in patients with the classic form of the disease than in those with the mild form. Children who had more severe structural abnormalities on temporal bone CT had worse hearing levels compared with those without structural abnormalities. CONCLUSION: Temporal bone CT scans in Cornelia de Lange syndrome could document combined structural abnormalities of the external, middle, and inner ear, which were one of the characteristic clinical manifestations; CT abnormalities were well correlated with the audiometric data.  (+info)

Predictors of psychological morbidity in parents of children with intellectual disabilities. (26/85)

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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (27/85)

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Behavioural phenotype of Cornelia de Lange syndrome: case-control study. (28/85)

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On the molecular etiology of Cornelia de Lange syndrome. (29/85)

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Tetraplegia and respiratory failure following mild cervical trauma in a child with Cornelia De Lange syndrome. (30/85)

Here we report a 6-year-old female patient with Cornelia de Lange syndrome who developed tetraplegia and respiratory failure after a seemingly trivial spinal trauma due to an spinal malformation that has not yet been described.  (+info)

Cohesin, gene expression and development: lessons from Drosophila. (31/85)

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Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. (32/85)

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