Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

ABSTRACT: Acrodysostosis refers to a rare heterogeneous group of bone dysplasias that share skeletal features, hormone resistance, and intellectual disability. Two genes have been associated with acrodysostosis with or without hormone resistance (PRKAR1A and PDE4D). Severe intellectual disability has been reported with acrodysostosis but brain malformations and ichthyosis have not been reported in these syndromes. Here we describe a female patient with acrodysostosis, intellectual disability, cerebellar hypoplasia, and lamellar ichthyosis. The patient has an evolving distinctive facial phenotype and childhood onset ataxia. X-rays showed generalized osteopenia, shortening of middle and distal phalanges, and abnormal distal epiphysis of the ulna and radius. Brain magnetic resonance imaging showed cere

SUBMITTER: Velasco HM 

PROVIDER: S-EPMC8170587 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature