Clin Orthop Surg.  2019 Dec;11(4):474-481. 10.4055/cios.2019.11.4.474.

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

• Lim C
• Jung ST
• Shin CH
• Park MS
• Yoo WJ
• Chung CY
• Choi IH
• Ko JM
• Cho TJ

• KMID: 2462543
• DOI: http://doi.org/10.4055/cios.2019.11.4.474

Abstract

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.

Keyword

Kabuki syndrome; Hip dislocation

MeSH Terms

Dermatoglyphics
Diagnosis*
Early Diagnosis
Follow-Up Studies
Hip Dislocation*
Hip*
Humans
Incidence
Intellectual Disability
Medical Records
Methods
Osteotomy
Rare Diseases

Figure

• 

  Fig. 1 Case 2, treated with a Pavlik harness. Ultrasonographic images of a 7-week-old female patient showing left hip dislocation of Graf type IV (A) and right hip dysplasia of Graf type IIa (−) (B). (C) Radiograph at 9.4 years of age: lateral center edge angle was 20° and Severin class was IA.

• 

  Fig. 2 Case 3, treated by closed reduction. (A) Initial radiograph of a 1.8-year-old female patient showing left hip dislocation of Tönnis grade 3. (B) Intraoperative arthrogram after closed reduction, showing concentric reduction of the left hip joint. (C) Concentric reduction was maintained at 2 months after closed reduction. (D) Radiograph at 12.4 years of age: lateral center edge angle was 20° and Severin class was IA.

• 

  Fig. 3 Case 5, treated by open reduction and osteotomy. (A) Initial radiograph of a 9-month-old male patient, showing left hip dislocation of Tönnis grade 2. (B) At age 2.8 years, the left hip remained subluxated laterally with acetabular dysplasia after medial approach open reduction performed at 9 months. (C) Femoral varization osteotomy and Dega osteotomy were performed. (D) Radiograph at 5.3 years of age: the left hip remained in concentric reduction state with a center edge angle of 18°.

• 

  Fig. 4 Age at the time of diagnosis of hip dislocation and Kabuki syndrome. The mean age at hip dislocation diagnosis was 7.7 months (range, 1 week to 22 months). The mean age at the time of Kabuki syndrome diagnosis was 4.7 years (range, 0.6 to 11.6 years). The mean interval from the diagnosis of hip dislocation to the diagnosis of Kabuki syndrome was 4.0 years (range, 0.2 to 9.8 years).

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