Autosomal dominant inheritance of the Kabuki make‐up (Niikawa‐Kuroki) syndrome

Halal, Fahed; Gledhill, Robert B.; Dudkiewicz, Aaron

doi:10.1002/ajmg.1320330317

Cited by 93 publications

(68 citation statements)

References 7 publications

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“…One report even noted an incidence of such cases of 25% 13) . From the literature review, we identified 12 cases 9)13) [19][20][21][22][23][24][25][26] . Diaphragmatic eventration occurred on the right side in 78% (7/9) and on both sides with right-side predominance in 22% (2/9).…”

Section: Discussionmentioning

confidence: 99%

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Furuta

Satō

Tsuji

et al. 2015

J St. Marianna Univ

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We report our experience with a case of Kabuki syndrome complicated by multiple anomalies requiring surgery. The patient was a male infant born at 41 weeks 5 days gestation, weighing 4,468 g, who presented with an imperforate anus and cleft palate. A radical operation was performed under a diagnosis of low imperforate anus without fistula. However, an anastomotic leakage occurred, requiring a colostomy. Despite the presence of an asymptomatic concomitant Morgagni hernia, the patient was placed under follow-up observation. Eight months after the infant's birth, the stoma was closed. Eleven months after birth, Kabuki syndrome was suspected because of the characteristic facial features, and a mutation in MLL2 was diagnosed.

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Section: Discussionmentioning

confidence: 99%

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Furuta

Satō

Tsuji

et al. 2015

J St. Marianna Univ

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“…A maioria dos casos é de ocorrência esporádica. A etiologia dessa síndrome é obscura, mas em algumas famílias há evidências sugerindo herança autossômica dominante 3,[6][7][8][9] . O primeiro caso dessa síndrome diagnosticado em paciente brasileiro foi relatado por Bever e Ende 10 .…”

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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“…The etiology of KMS is not known, but a genetic cause, expressed in an autosomal dominant fashion is suggested by the reported parent-to-child transmission of KMS [1,2], Isolated cases are thought to represent new mutations. In three patients, a cytogenetic aberration involving either the X or Y chromosome has been detected, pointing to a possible gene localization [1], Here, we report a girl with the KMS associated with growth hormone (GH) deficien cy and premature thelarche of infantile onset.…”

Section: Introductionmentioning

confidence: 99%

Growth Hormone Deficiency and Premature Thelarche in a Female Infant with Kabuki Makeup Syndrome

Devriendt

Lemli²,

Craen³

et al. 1995

Horm Res

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Autosomal dominant inheritance of the Kabuki make‐up (Niikawa‐Kuroki) syndrome

Cited by 93 publications

References 7 publications

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

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

Growth Hormone Deficiency and Premature Thelarche in a Female Infant with Kabuki Makeup Syndrome

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