{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:23:20Z","timestamp":1787765000170,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Genetic disorders manifest clinically in a variety of phenotypes. A patient with cataract, hypoacusis, hand and foot deformities, and diabetes was not reported. The patient is a 74-year-old male with a history of congenital foot and hand deformities manifesting as brachydactyly of fingers 4 and 5 on the right side and brachydactyly and syndactyly of the fingers 1-5 on the left side. Foot deformities required orthopedic surgery from an early age. He later developed cataract that required surgery, hypoacusis with tinnitus on the left side, and diabetes. Cerebral MRI revealed generalized atrophy. Since the family history was positive for deaf muteness in his father, a genetic defect was considered. In summary, a novel syndrome has been described that manifests itself in cerebral atrophy, cataract, hypoacusis, hand and foot deformities, and diabetes. Considering the father's deaf muteness, a genetic cause of the syndrome is likely.<\/jats:p>","DOI":"10.4103\/jfmpc.jfmpc_642_23","type":"journal-article","created":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T16:01:43Z","timestamp":1702915303000},"page":"3415-3417","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-\/syndactyly"],"prefix":"10.4103","volume":"12","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[{"name":"Department of Neurological, Neurology and Neurophysiology Center, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"R3-20260511","doi-asserted-by":"crossref","first-page":"103597","DOI":"10.1016\/j.ejmg.2018.12.002","article-title":"Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes","volume":"62","author":"Rai","year":"2019","journal-title":"Eur J Med Genet"},{"key":"R4-20260511","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1159\/000452609","article-title":"Chromosome 1p31.1p31.3 deletion in a patient with craniosynostosis, central nervous system and renal malformation: Case report and review of the literature","volume":"8","author":"Rivera-Pedroza","year":"2017","journal-title":"Mol Syndromol"},{"key":"R5-20260511","first-page":"467","article-title":"Genetic analysis of a pedigree affected with congenital split-hand\/foot malformation","volume":"37","author":"Li","year":"2020","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"R6-20260511","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ejmg.2013.12.005","article-title":"A prenatal case of split-hand malformation associated with 17p13.3 triplication - A dilemma in genetic counseling","volume":"57","author":"Luk","year":"2014","journal-title":"Eur J Med Genet"},{"key":"R7-20260511","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1093\/hmg\/ddp553","article-title":"A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly type E","volume":"19","author":"Maass","year":"2010","journal-title":"Hum Mol Genet"},{"key":"R8-20260511","doi-asserted-by":"crossref","first-page":"147","DOI":"10.3724\/SP.J.1005.2011.00147","article-title":"Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1","volume":"33","author":"Li","year":"2011","journal-title":"Yi Chuan"},{"key":"R9-20260511","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s13353-013-0178-5","article-title":"Split-hand\/foot malformation-molecular cause and implications in genetic counseling","volume":"55","author":"Sowi\u0144ska-Seidler","year":"2014","journal-title":"J Appl Genet"},{"key":"R10-20260511","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/ajmg.a.61945","article-title":"Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms","volume":"185","author":"Abu-El-Haija","year":"2021","journal-title":"Am J Med Genet A"},{"key":"R11-20260511","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/ajmg.a.32731","article-title":"Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease","volume":"149A","author":"Van Hove","year":"2009","journal-title":"Am J Med Genet A"},{"key":"R12-20260511","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1016\/j.dsx.2019.06.026","article-title":"Diabetic ketoacidosis in a child with congenital rubella syndrome: A case report and review of literature","volume":"13","author":"Kumar Panda","year":"2019","journal-title":"Diabetes Metab Syndr"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_642_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:54:03Z","timestamp":1787763243000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_642_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_642_23","relation":{},"ISSN":["2249-4863","2278-7135"],"issn-type":[{"value":"2249-4863","type":"print"},{"value":"2278-7135","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"2023-04-13","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-30","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}