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Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.
Umapathy N, Thirugnana Sambanda Moorthy B, Azhagar Nambi Santhi V, Nair LDV. Umapathy N, et al. BMJ Case Rep. 2024 Jun 4;17(6):e259350. doi: 10.1136/bcr-2023-259350. BMJ Case Rep. 2024. PMID: 38834308
With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was …
With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlo …