{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T13:05:25Z","timestamp":1768482325324,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,11]],"date-time":"2020-08-11T00:00:00Z","timestamp":1597104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 (<jats:italic>PRKAR1A<\/jats:italic> and <jats:italic>PDE4D<\/jats:italic>). 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\u2010rays showed generalized osteopenia, shortening of middle and distal phalanges, and abnormal distal epiphysis of the ulna and radius. Brain magnetic resonance imaging showed cerebellar atrophy without other brainstem abnormalities. Genetic workup included nondiagnostic chromosomal microarray and skeletal dysplasia molecular panels. These clinical findings are different from any recognized form of acrodysostosis syndrome. Whole exome sequencing did not identify rare or predicted pathogenic variants in genes associated with known acrodysostosis, lamellar ichthyosis, and other overlapping disorders. A broader search for rare alleles absent in healthy population databases and controls identified two heterozygous truncating alleles in <jats:italic>FBNL7<\/jats:italic> and <jats:italic>PPM1M<\/jats:italic> genes, and one missense allele in the <jats:italic>NPEPPS<\/jats:italic> gene. Identification of additional patients is required to delineate the mechanism of this unique disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.61782","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T06:06:47Z","timestamp":1597212407000},"page":"2214-2221","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel progressive <scp>acrodysostosis\u2010like<\/scp> skeletal dysplasia, cerebellar atrophy, and ichthyosis"],"prefix":"10.1002","volume":"182","author":[{"given":"Harvy M.","family":"Velasco","sequence":"first","affiliation":[{"name":"Master of Science in Human Genetics Program, Department of Morphology Universidad Nacional de Colombia  Cundinamarca Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehsan","family":"Ullah","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes 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Cardiovascular de Colombia  Bucaramanga Colombia"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,11]]},"reference":[{"issue":"2","key":"e_1_2_8_2_1","first-page":"182","article-title":"Type IIIc Gaucher disease and acrodysostosis","volume":"2","author":"Abrahamov A.","year":"2000","journal-title":"The Israel Medical Association 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