Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate

Handa, Yujiro; Maeda, Keiko; Toida, Makoto; Kitajima, Tadashi; Ishimaru, Jun-Ichi; Nagai, Atsushi; Oka, Nobumitsu

doi:10.1016/s1010-5182(05)80570-0

Cited by 36 publications

(18 citation statements)

References 8 publications

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“…Eversion of the lower lateral eyelid, short nasal septum, arched eyebrows, prominent ears, abnormal dentition, high-arched palate, epicanthal folds, and strabismus were observed in all 5 patients. None of our patients had cleft lip and/or palate, an anomaly reported in 41 percent of the patients by Niikawa and Kuroki [1988] as well as in other cases [Handa et al, 1991;Hudgins et al, 1993;Wulfsberg et al, 19941. Mild to moderate mental retardation was observed in our 5 patients.…”

Section: Discussionsupporting

confidence: 48%

Kabuki make‐up (Niikawa‐Kuroki) syndrome in five Spanish children

et al. 1995

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We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.

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Section: Discussionsupporting

confidence: 48%

Kabuki make‐up (Niikawa‐Kuroki) syndrome in five Spanish children

et al. 1995

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“…One study did not declare the cause of GHD [5]; five other studies mentioned the GH test results [6,7,15,16,17]. The patients ranged in age from 1 to 9 years (mean age 4).…”

Section: Discussionmentioning

confidence: 99%

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome

Schött

Gerver²,

Stumpel

2016

Horm Res Paediatr

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Background/Aims: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown. Methods: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed. Results: Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels. Conclusions: The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.

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“…[1994] (Niikawa et al, 1988;Handa et al, 1991), three by Ikegawa et al [1993], two by Ho and Eaves [1997], and single cases by Kadotani et al [1984], Iwama et al [1987], Kawada et al [1990], Matsumura et al [1992], Tawa et al [1994], Wang et al [1994], Watanabe et al [1994], Ijichi et al [1996], Kobayashi and Sakuragawa [1996], McGinniss et al [1997]. Italic numbers in columns denote significant differences between NKS or non-NKS, Asian, or non-Asian patients as discussed in the text.…”

Section: Clinical Reportsmentioning

confidence: 99%

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Wilson

1998

Am. J. Med. Genet.

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Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the literature, providing data on 183 cases. Eight patients had disproportionate microcephaly and in one autopsied patient there was frontal lobe atrophy, focal polymicrogyria, and a hypoplastic fourth ventricle. The metacarpophalangeal pattern profiles of three Caucasian patients with NKS were similar to that of a prior case report, but those of two Hispanic patients were more variable. NKS was eliminated by follow-up in nine suspect cases, highlighting the diagnostic value of findings such as arched eyebrows, long palpebral fissures, flat nasal tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalangeal pattern profile, supporting its diagnostic utility in selected cases. Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese patients. Complications affecting cognitive, visual, hearing, cardiac, renal, skeletal, immune, and endocrinologic functions are translated into a program for preventive management. X chromosome anomalies are the most compelling of diverse genetic changes seen in NKS, and this report adds another case to several possible instances of vertical transmission. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition.

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Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate

Cited by 36 publications

References 8 publications

Kabuki make‐up (Niikawa‐Kuroki) syndrome in five Spanish children

Kabuki make‐up (Niikawa‐Kuroki) syndrome in five Spanish children

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

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