A case of the kabuki make-up syndrome with familial inv(9)(p13q13).

Kadotani, Tetsuji; Watanabe, Yoko; Sawano, Kunihiko

doi:10.2183/pjab.60.92

Cited by 3 publications

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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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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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“…Análise cromossômica foi realizada na maioria dos casos publicados com síndrome de Niikawa-Kuroki, e foram descritas algumas alterações envolvendo os cromossomos 4, 6, 9, 10, 12, 13, 15, 17 e os cromossomos sexuais 3,[13][14][15][16][17][18][19][20] . Essas associações, entre síndrome Cabúqui e anomalias cromossômicas variadas -inclusive o presente relato com trissomia 21 -parecem ser acidentais e não, etiologicamente relacionadas.…”

Section: Discussionunclassified

Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

Silva

Freitas²,

Costa³

et al. 1999

J Pediatr (Rio J)

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ResumoObjetivo: Descrever um caso atípico de síndrome de Down com manifestações clínicas adicionais, que podem ser componentes da síndrome Cabúqui (síndrome de Niikawa-Kuroki).Relato clínico: Relatamos a história clínica de uma menina de 19 meses de idade com cariótipo 47,XX,+21, que apresentava braquicefalia, face plana, fissuras palpebrais longas, eversão da porção lateral das pálpebras inferiores, supercílios arqueados e escassos nas regiões laterais, cílios longos, epicanto, catarata cortical, orelhas pequenas, língua protrusa, hipotonia muscular, atraso psicomotor, hiperflexibilidade articular, braquidactilia e alterações dermatoglíficas.Conclusão: O diagnóstico de síndrome de Down foi confirmado citogeneticamente. Entretanto, a presença de anomalias adicionais -notadamente na região ocular -sugerem que a criança, provavelmente, manifesta também a síndrome Cabúqui. AbstractObjective: To describe an atypical case of Down syndrome with additional clinical manifestations, which could be components of Kabuki (Niikawa-Kuroki) syndrome.Clinical report: We report the clinical history of a 19-monthold girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.Conclusion: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomaliesmainly in the ocular region -suggests that the child may also manifest the Kabuki syndrome.

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“…In 1981 two research groups directed, respectively, by Kuroki and Niikawa, independently described a new 0 1995 Wiley-Liss, Inc. syndrome characterized by mental retardation, peculiar face with long palpebral fissures, short stature, and unusual dermatoglyphic patterns (Kuroki et al, 1981;Niikawa et al, 1981). As the patients' faces resembled the make-up of Kabuki actors, the condition was called the Kabuki make-up syndrome; it is also named after its discoverers Niikawa and Kuroki. At present, about 70 patients, mostly Japanese, have been reported (Kuroki et al, 1981;Niikawa et al, 1981;Koutras and Fisher, 1982;Braun and Schmid, 1984;Kadotani et al, 1984;Ohdo et al, 1985;Pagon et al, 1985;Kaiser-Kupfer et al, 1986;Sheikh et al, 1986;Niikawa et al, 1988;Halal et al, 1989;Meinecke and Rodewald, 1989;Pebenito and Ferretti, 1989;Gillis et al, 1990;Majewski et al, 1991). The cause of the syndrome has not been determined, although the available findings suggest autosomal dominant inheritance (Sheikh et al, 1986;Niikawa et al, 1988;Halal et al, 1989).…”

Section: Introductionmentioning

confidence: 99%

Kabuki make‐up (Niikawa‐Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations

Ilyina¹,

Lurie

Naumtchik³

et al. 1995

Am. J. Med. Genet.

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We describe clinical manifestations and historical data on ten patients with Kabuki make-up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical face, retarded physical development, and mild to moderate mental retardation. Two of the probands have low-normal intelligence. Prominent and broad philtrum was described as an important component manifestation of the syndrome. In three families some clinical manifestations of Kabuki make-up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences between Asian and non-Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature review suggest autosomal dominant inheritance with different expressivity of the Kabuki make-up syndrome.

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A case of the kabuki make-up syndrome with familial inv(9)(p13q13).

Cited by 3 publications

References 0 publications

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

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

Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

Kabuki make‐up (Niikawa‐Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations

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