Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

Lynch, Sally Ann; Ashcroft, K A; Zwolinski, Simon; Clarke, C; Burn, John

doi:10.1136/jmg.32.3.227

Cited by 40 publications

(31 citation statements)

References 10 publications

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“…12/313 (3.8%) Braun and Schmid [1984]; Halal et al [1989]; Philip et al [1992]; Bay et al [1993]; Lynch et al [1995]; Silengo et al [1996]; Tsukahara et al …”

Section: Acknowledgmentsmentioning

confidence: 97%

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

Geneviève

Amiel

Viot

et al. 2004

American J of Med Genetics Pt A

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Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. Five major criteria delineate KS namely postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, and a characteristic facial dysmorphism. Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypical features that we have observed: chronic and/or severe diarrhea (4/20) including celiac disease, diaphragmatic defects (3/20), pseudarthrosis of the clavicles (2/20), vitiligo (2/20), and persistent hypoglycemia (2/20). Other occasional findings were severe autoimmune thrombopenia, cerebellar vermis atrophy, and myopathic features. Interestingly, one of our KS patients presented with a clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve coloboma, VSD, bilateral cryptorchidism, and severe deafness). Because these features are more frequent in our series than previously described, we propose to carefully investigate these manifestations during KS patient survey in an attempt to determine their real frequency and in order to improve clinical management.

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“…12/313 (3.8%) Braun and Schmid [1984]; Halal et al [1989]; Philip et al [1992]; Bay et al [1993]; Lynch et al [1995]; Silengo et al [1996]; Tsukahara et al …”

Section: Acknowledgmentsmentioning

confidence: 97%

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

Geneviève

Amiel

Viot

et al. 2004

American J of Med Genetics Pt A

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“…These last 2 findings have been reported at a low frequency in patients with KS [Philip et al, 1992;Ewart-Toland et al, 1998;Wilson, 1998 In addition to hyperinsulinism, the only other previously reported cause of hypoglycemia is isolated ACTH deficiency, but in many other cases of either neonatal or persistent hypoglycemia, the cause remains unknown [Philip et al, 1992;Ewart-Toland et al, 1998;Wilson, 1998;Bereket et al, 2001;Geneviève et al, 2004;Armstrong et al, 2005;Ma et al, 2005]. Diaphragmatic defects have also been rarely reported in KS and include congenital diaphragmatic hernia and unilateral or bilateral eventration of the diaphragm [Lynch et al, 1995;van Haelst et al, 2000;McGaughran et al, 2001;Adam and Hudgins, 2005;Vaux et al, 2005;Abdel-Salam et al, 2008]. The frequency has been estimated to be low (4-8%) but more common than originally suspected, particularly in nonAsian female patients, like the present case [Donadio et al, 2000;Adam and Hudgins, 2005].…”

Section: Discussionmentioning

confidence: 94%

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel <b><i>MLL2</i></b> Mutation

2012

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We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.

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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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Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

Abstract: We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta.

Cited by 40 publications

References 10 publications

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel <b><i>MLL2</i></b> Mutation

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

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