Abstract
Ichthyosis, mental retardation, dwarfism, and renal impairment is a rare congenital disease which was first described by Passwell in 1975 in two sisters and one brother of an Iranian family (Passwell et al. 1975). The name originates from the main clinical characteristics which are non-bullous congenital ichthyosis, mental retardation, dwarfism, and renal injury (Passwell et al. 1975). Its prevalence is less than one per one million live births and is estimated that less than 1000 individuals with this syndrome live in the United States (National Cancer Institute: Ichthyosis-intellectual disability-dwarfism-renal impairment 2023). Also, it is usually presented in newborns (National Cancer Institute: Ichthyosis-intellectual disability-dwarfism-renal impairment 2023).
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References
Fischer J, Bourrat E (2020) Genetics of inherited ichthyoses and related diseases. Acta Derm Venereol 100(7):adv00096. https://doi.org/10.2340/00015555-3432
National Cancer Institute: Ichthyosis-intellectual disability-dwarfism-renal impairment. https://rarediseases.info.nih.gov/diseases/4641/ichthyosis-intellectual-disability-dwarfism-renal-impairment (2023). Accessed 2023
Oji V, Traupe H (2009) Ichthyosis. Am J Clin Dermatol 10(6):351–364. https://doi.org/10.2165/11311070-000000000-00000
Passwell JH, Goodman RM, Ziprkowski M, Cohen BE (1975) Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome. Clin Genet 8(1):59–65. https://doi.org/10.1111/j.1399-0004.1975.tb01955.x
Rayner A, Lampert RP, Rennert OM (1978) Familial ichthyosis, dwarfism, mental retardation, and renal disease. J Pediatr 92(5):766–768. https://doi.org/10.1016/S0022-3476(78)80146-2
Yoneda K (2016) Inherited ichthyosis: syndromic forms. J Dermatol 43(3):252–263. https://doi.org/10.1111/1346-8138.13284
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Nejadghaderi, S.A., Hanaei, S. (2024). Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1046-1
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DOI: https://doi.org/10.1007/978-3-319-66816-1_1046-1
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