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Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We revie...

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Autores principales: Lim, Chaemoon, Jung, Sung-Taek, Shin, Chang Ho, Park, Moon Seok, Yoo, Won Joon, Chung, Chin Youb, Choi, In Ho, Ko, Jung Min, Cho, Tae-Joon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Orthopaedic Association 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6867925/
https://www.ncbi.nlm.nih.gov/pubmed/31788172
http://dx.doi.org/10.4055/cios.2019.11.4.474
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author Lim, Chaemoon
Jung, Sung-Taek
Shin, Chang Ho
Park, Moon Seok
Yoo, Won Joon
Chung, Chin Youb
Choi, In Ho
Ko, Jung Min
Cho, Tae-Joon
author_facet Lim, Chaemoon
Jung, Sung-Taek
Shin, Chang Ho
Park, Moon Seok
Yoo, Won Joon
Chung, Chin Youb
Choi, In Ho
Ko, Jung Min
Cho, Tae-Joon
author_sort Lim, Chaemoon
collection PubMed
description BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. RESULTS: The average age of patients at the time of diagnosis of hip dislocation was 7.7 months (range, 1 week to 22 months). None of the patients were diagnosed as having Kabuki syndrome at that time. Two patients were treated with a Pavlik harness; one, with closed reduction; two, with open reduction and later pelvic and/or femoral osteotomies; and one, with open reduction combined with pelvic osteotomy. The patients were followed up for 5.8 years on average (range, 2.0 to 10.5 years). The radiologic outcome was graded as Severin IA or IB for three patients who were older than 6 years at the latest follow-up (mean age, 9.9 years; range, 7.8 to 12.4 years). In the remaining three patients younger than 6 years (mean age, 3.8 years; range, 2.7 to 5.3 years), the lateral center edge angle was more than 15°. The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. The mean interval between the diagnosis of hip dislocation and Kabuki syndrome was 4.0 years. CONCLUSIONS: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management.
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spelling pubmed-68679252019-12-01 Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome Lim, Chaemoon Jung, Sung-Taek Shin, Chang Ho Park, Moon Seok Yoo, Won Joon Chung, Chin Youb Choi, In Ho Ko, Jung Min Cho, Tae-Joon Clin Orthop Surg Original Article BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. RESULTS: The average age of patients at the time of diagnosis of hip dislocation was 7.7 months (range, 1 week to 22 months). None of the patients were diagnosed as having Kabuki syndrome at that time. Two patients were treated with a Pavlik harness; one, with closed reduction; two, with open reduction and later pelvic and/or femoral osteotomies; and one, with open reduction combined with pelvic osteotomy. The patients were followed up for 5.8 years on average (range, 2.0 to 10.5 years). The radiologic outcome was graded as Severin IA or IB for three patients who were older than 6 years at the latest follow-up (mean age, 9.9 years; range, 7.8 to 12.4 years). In the remaining three patients younger than 6 years (mean age, 3.8 years; range, 2.7 to 5.3 years), the lateral center edge angle was more than 15°. The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. The mean interval between the diagnosis of hip dislocation and Kabuki syndrome was 4.0 years. CONCLUSIONS: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. The Korean Orthopaedic Association 2019-12 2019-11-12 /pmc/articles/PMC6867925/ /pubmed/31788172 http://dx.doi.org/10.4055/cios.2019.11.4.474 Text en Copyright © 2019 by The Korean Orthopaedic Association http://creativecommons.org/licenses/by-nc/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Lim, Chaemoon
Jung, Sung-Taek
Shin, Chang Ho
Park, Moon Seok
Yoo, Won Joon
Chung, Chin Youb
Choi, In Ho
Ko, Jung Min
Cho, Tae-Joon
Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title_full Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title_fullStr Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title_full_unstemmed Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title_short Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
title_sort diagnosis and management of hip dislocation in patients with kabuki syndrome
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6867925/
https://www.ncbi.nlm.nih.gov/pubmed/31788172
http://dx.doi.org/10.4055/cios.2019.11.4.474
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