{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:37:39Z","timestamp":1747190259088,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T00:00:00Z","timestamp":1594425600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Orthopedics"],"published-print":{"date-parts":[[2020,7,11]]},"abstract":"<jats:p><jats:italic>Purpose<\/jats:italic>. Progressive deformity of the lower limbs can be encountered in a long list of syndromic associations. The baseline tool in the management of such disorders is to approach to a definite diagnosis. <jats:italic>Methods<\/jats:italic>. We describe a 4-year-old girl who presented with the clinical phenotype and genotype of congenital erythrokeratoderma, keratosis, and sensorineural hearing loss (keratitis-ichthyosis-deafness syndrome) (KID syndrome). She manifested progressive contractures of the knees associated with talipes equinovarus of the feet. The latter deformities were the main reasons behind her severe retardation in acquiring the normal locomotor functions. <jats:italic>Results<\/jats:italic>. The analysis revealed mutations in intron 1 of the GJB2 gene of C.32G&gt;A (p.Gly11Glu) and c.35delG in the compound heterozygous state. The presence in the genotype of the \u201cdominant\u201d mutation c.32G&gt;A (p.Glu11Glu) was compatible with the clinical phenotype of KID syndrome. <jats:italic>Conclusion<\/jats:italic>. Surgical interventions through the extension of the hamstring tendons have been performed successfully via the application of an external distraction apparatus, namely, Volkov- Oganesyan. The latter procedures resulted in total release of her awkward knee contractures. Eventually, the child was able to regain the physiological alignment of her lower limbs and resume walking. To the best of our knowledge, the overall management of this child could be the first in the literature.<\/jats:p>","DOI":"10.1155\/2020\/8747392","type":"journal-article","created":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T23:31:39Z","timestamp":1594510299000},"page":"1-5","source":"Crossref","is-referenced-by-count":0,"title":["Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome"],"prefix":"10.1155","volume":"2020","author":[{"given":"Oleg","family":"Kozhevnikov","sequence":"first","affiliation":[{"name":"Orthopedic Children\u2019s Department, Central Research Institute of Traumatology and Orthopedics n.a. N.N.Priorov, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Kralina","sequence":"additional","affiliation":[{"name":"Orthopedic Children\u2019s Department, Central Research Institute of Traumatology and Orthopedics n.a. N.N.Priorov, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulia","family":"Yurasova","sequence":"additional","affiliation":[{"name":"Orthopedic Children\u2019s Department, Central Research Institute of Traumatology and Orthopedics n.a. N.N.Priorov, Moscow, Russia"},{"name":"Department of Hospital Pediatrics No. Two of Russian National Research Medical University, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Kenis","sequence":"additional","affiliation":[{"name":"Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H.Turner, Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne Gerit","family":"Kircher","sequence":"additional","affiliation":[{"name":"Department of Medical Chemistry, Medical University of Vienna, Vienna 1090, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5439-3346","authenticated-orcid":true,"given":"Ali","family":"Al Kaissi","sequence":"additional","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria"},{"name":"Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","first-page":"255","volume":"33","year":"1915","journal-title":"J Cutan. Dis"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1981.01650050041019"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1979.04010040045015"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1996.tb01414.x"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100084085"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00747.x"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22518.x"},{"issue":"1","key":"8","first-page":"1","volume":"40","year":"1939","journal-title":"Canadian Medical Association Journal"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1086\/339986"},{"first-page":"151","volume-title":"Functional restoration of joint deformities with the aid of hinged distraction apparatus in clinical practice","year":"1987","key":"10"},{"key":"11","first-page":"52","volume":"5","year":"1992","journal-title":"Vestnik Rossiiskoi akademii meditsinskikh nauk"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80073-0"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00178.x"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00767.x"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400302"},{"key":"16","first-page":"585","volume":"78","year":"1971","journal-title":"Bull Soc Fr Derm Syp"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2002.04893.x"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2003.12.042"}],"container-title":["Case Reports in Orthopedics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crior\/2020\/8747392.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crior\/2020\/8747392.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crior\/2020\/8747392.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T23:31:42Z","timestamp":1594510302000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crior\/2020\/8747392\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,11]]},"references-count":18,"alternative-id":["8747392","8747392"],"URL":"https:\/\/doi.org\/10.1155\/2020\/8747392","relation":{},"ISSN":["2090-6749","2090-6757"],"issn-type":[{"type":"print","value":"2090-6749"},{"type":"electronic","value":"2090-6757"}],"subject":[],"published":{"date-parts":[[2020,7,11]]}}}