Waardenburg syndrome: clinical features
Evidence-based neurology checklist on waardenburg syndrome: clinical features: Neurological features Facial dysmorphism: with WS2 and WS3 Growth development Neonatal hypotonia Seizures Hereditary spastic paraplegia (HSP) Neural tube defects: with WS1 Deafness Pigmentation anomalies Renal and…
Neurological features
- Facial dysmorphism: with WS2 and WS3
- Growth development
- Neonatal hypotonia
- Seizures
- Hereditary spastic paraplegia (HSP)
Neural tube defects: with WS1
Deafness
Pigmentation anomalies
Renal and genital features
Ophthalmic features
PCWH syndrome: with WS4 SOX10 gene mutations
SOX10 related disorders
Differential diagnosis
References
- Bogdanova-Mihaylova P, Alexander MD, Murphy RPJ, Murphy SM. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation. J Peripher Nerv Syst 2017; 22:219-223.
- Fernández RM, Núñez-Ramos R, Enguix-Riego MV, et al. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. Am J Med Genet A 2014; 164A:542-547.
- Touraine RL, Attié-Bitach T, Manceau E, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000; 66:1496-1503.
- Bondurand N, Dastot-Le Moal F, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 2007; 81:1169-1185.
- Suzuki N, Mutai H, Miya F, et al. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10. BMC Pediatr 2018; 18:171.
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