![]() ![]() ![]() Magnetic resonance imaging (MRI) of the spine with and without contrast revealed a syrinx of the conus medullaris without other abnormalities (Fig. Genetic counseling was pursued, and the patient’s parents declined additional familial karyotyping. The deletion extended from band 10q26.11 to 10q26.3, comprising 112 genes including 62 OMIM genes (Supplementary Table 1). Prior microarray analysis as a neonate had shown a 14.34 Mb terminal deletion of chromosome 10q. She had multiple congenital abnormalities including micrognathia, glossoptosis, and airway obstruction characteristic of PRS, as well as cleft palate, strabismus, patent ductus arteriosus, mild dilation of the aortic sinuses, clinodactyly of the fifth finger, and syndactyly involving the bilateral second and third toes. Medical history included premature birth at 31 weeks with grade I intraventricular hemorrhage. ![]() Neurological examination was notable for diffuse hypotonia and global developmental delay, but without focal deficit, incontinence, or prior urinary tract infections. We additionally report a case of a PRS patient presenting with tethered cord and lumbar syrinx in the setting of chromosome 10q terminal deletion.Ī 6-month-old female with a history of PRS was found to have a sacral dimple during a routine outpatient checkup. We thus performed a systematic review of spinal disease in patients with PRS. The molecular genetic and clinical characteristics of spinal disease in PRS remain poorly characterized. Spinal pathologies have rarely been reported in association with PRS, often co-occurring with other congenital anomalies. PRS is most commonly associated with hearing loss, dysmorphic facial features, global developmental delay/intellectual disability, and/or congenital heart defects. Approximately 50% of PRS cases are isolated (non-syndromic), while the remainder are associated with additional anomalies such as a genetic or acquired syndrome. The reported incidence varies widely with an approximate occurrence of 1 in 8500 to 14,000 births. The Pierre Robin sequence (PRS), also known as Robin sequence, is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. ![]()
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