Kabuki make-up (Niikawa-Kuroki) syndrome

Philip, Nicole; Meinecke, Peter; David, A.; Dean, John; Aymé, Ségolène; Clark, Rich; Gross-Kieselstein, E; Hosenfeld, D; Moncla, Anne; Müller, D

doi:10.1097/00019605-199204000-00001

Cited by 99 publications

(61 citation statements)

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“…Ohdo et al 5 were the first to draw attention to the association between the syndrome and congenital heart disease. Niikawa et al, in their 1988 series,3 found that a third of their patients had a heart defect and this finding was later confirmed by Philip et al, 4 who also stated that the syndrome appeared not to be associated with any specific type of heart abnormality.…”

mentioning

confidence: 87%

Coarctation of the aorta in Kabuki syndrome.

Hughes

Davies

1994

Archives of Disease in Childhood

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The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 300/0. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxtaductal coarctation occurs with a frequency of 25%.

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mentioning

confidence: 87%

Coarctation of the aorta in Kabuki syndrome.

Hughes

Davies

1994

Archives of Disease in Childhood

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“…The incidence of hip dislocation with Kabuki syndrome was reported to be 18-62 % [3][4][5]16], but hip dysplasia had a lower incidence (12 %) in the neonatal period [26], which shows it is caused by congenital and developmental factors [16].…”

Section: Discussionmentioning

confidence: 99%

“…Kabuki syndrome, originally known as Kabuki make-up syndrome and Niikawa-Kuroki syndrome, is a multiple malformation/mental retardation syndrome that was first described in Japan in 1981 [1,2], but is now known to occur in many other ethnic groups [3][4][5]. To date, more than 350 cases have been identified in the literature, and disease incidence is estimated at 1/32,000 [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

“…More recently, pseudarthrosis of the clavicles [11], recurrent dislocation of the patella [12,13], cleft hand [14], syndactyly [4], tarsal coalition [4] and congenital talipes equinovarus [15] have also been reported.…”

Section: Introductionmentioning

confidence: 99%

“…Hip dislocation in Kabuki syndrome is well recognized, with the incidence of hip dislocation reported to be 18-62 % [3][4][5]16]. However, the literature on the management of hip dislocation is rare [16].…”

Section: Introductionmentioning

confidence: 99%

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Surgical treatment of hip dislocation in Kabuki syndrome: Use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency

Wada¹,

Nakamura

Yamaguchi

et al. 2012

Journal of Children's Orthopaedics

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Purpose Kabuki syndrome is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, postnatal growth deficiency and mental retardation. This report reviews our results in the operative treatment of hip dislocations in patients with Kabuki syndrome. Methods Between 2001 and 2009, seven dislocated hips (three unilateral and two bilateral hips) in five patients (all girls) were operatively treated at our institution. The operative treatment consists of open reduction, femoral derotation varus osteotomy, pelvic osteotomy (Salter in one and incomplete periacetabular osteotomy in six hips) and capsular plication. The age of the patients at the time of surgery ranged from 2.4 to 5.7 years, with an average of 3.6 years. Results The follow-up postoperative period ranged from 3.2 to 6.3 years, with an average of 5.0 years. At the final follow-up, all patients reported no click and no pain, and showed well-contained hips by radiographs. All seven hips were graded as Severin class I-II. One patient presented as having habitual dislocation of the hip 4.4 years after surgery. Computed tomographic (CT) scans revealed posterior acetabular wall deficiency, which was not corrected by the anterolaterally directed Salter osteotomy. The incomplete periacetabular osteotomy provided sufficient posterolateral coverage of the acetabulum. Conclusion Operative treatment combining open reduction, femoral derotation varus and incomplete periacetabular osteotomies, and capsular plication provided successful results in patients with Kabuki syndrome who had the characteristics of hip instability such as ligamentous laxity, muscular hypotonia and posterior acetabular wall deficiency.

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Kabuki syndrome is not caused by a microdeletion in the DiGeorgeVelocardiofacial chromosomal region within 22q11.2

Zackai

Niikawa

et al. 1996

Am. J. Med. Genet.

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Kabuki syndrome (KS) or Niikawa‐Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene‐deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non‐Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. © 1996 Wiley‐Liss, Inc.

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Kabuki make-up (Niikawa-Kuroki) syndrome

Cited by 99 publications

References 0 publications

Coarctation of the aorta in Kabuki syndrome.

Coarctation of the aorta in Kabuki syndrome.

Surgical treatment of hip dislocation in Kabuki syndrome: Use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency

Kabuki syndrome is not caused by a microdeletion in the DiGeorgeVelocardiofacial chromosomal region within 22q11.2

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