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

Ilyina, Helena G.; Lurie, Iosif W.; Naumtchik, Irena; Amoashy, Dmitry; Stephanenko, Galina; Федотов, В. В.; Kostjuk, Albina

doi:10.1002/ajmg.1320560202

Cited by 57 publications

(65 citation statements)

References 11 publications

(19 reference statements)

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“…Oliveira, personal communication]. Cleft lip/palate and hypodontia are main manifestations of VWS, but they are often present in KMS patients [Niikawa et al, 1988;Philip et al, 1992;SchranderStumpel et al, 1994;Ilyina et al, 1995;Burke and Jones, 1995]. Moreover, a patient with a 1q25-q32.1 deletion reported by Hamano et al [1987] had a facial appearance resembling those of KMS patients.…”

Section: Resultsmentioning

confidence: 99%

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

et al. 1999

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We reported on a 5-year-old Japanese girl with clinical manifestations of Kabuki make-up syndrome (KMS) and van der Woude syndrome (VWS). Since the concurrence of the two syndromes is known in four patients, including ours, it suggests a common cause. Assuming that the association of the two syndromes was caused by a microdeletion involving the putative KMS/VWS genes, we carried out fluorescence in situ hybridization and microsatellite analyses using PAC clones and dinucleotide repeat markers spanning the VWS1 critical region at 1q32-q41. No deletion was detected at the VWS1 critical region.

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Section: Resultsmentioning

confidence: 99%

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

et al. 1999

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“…Previously reported findings include horseshoe kidneys (3 in 70), double renal pelvis (3 in 58), duplication of the collecting system (3 in 16), hydronephrosis (3 in 70), renal hypoplasia (1 in 10), and megaloureter (2 in 58) [Niikawa et al, 1988;Philip et al, 1992;Ilyina et al, 1995]. Both of the patients described here had renal findings including case 1 with hydronephrosis and hydroureter and case 2 with a dysplastic kidney requiring transplantation.…”

Section: Discussionmentioning

confidence: 60%

“…Hydronephrosis has been reported in a few cases of KS [Niikawa et al, 1988;Philip et al, 1992], but renal dysplasia has only been reported once in the past and was not severe enough to require surgery [Ilyina et al, 1995]. To our knowledge no biliary or hepatic anomalies were reported previously.…”

Section: Introductionmentioning

confidence: 75%

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

et al. 1998

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Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal anomalies, and short stature. Renal anomalies have been reported in a few cases of KS, but to our knowledge, hepatic anomalies have not. Here, we document two cases of KS requiring liver or kidney transplantation: one with severe hepatic and renal anomalies and one with severe renal anomalies. Both cases had the characteristic facial appearance of children with KS, postnatal growth deficiency, and developmental delay. At birth, case 1 presented with hypoglycemia, ileal perforation, right hydroureter, and hydronephrosis. The patient subsequently developed hyperbilirubinemia, hepatic abscess, and cholangitis. At age 8 months, he underwent a liver transplant. Hepatic pathology diagnosed neonatal sclerosing cholangitis. Case 2 presented with renal failure at age 6 years. Renal ultrasound study showed markedly dysplastic kidneys requiring transplantation. In addition to characteristic findings of KS, she had coronal synostosis and was shown to have immune deficiency and an autoimmune disorder manifesting as Hashimoto thyroiditis and vitiligo. We conclude: 1) severe hepatic and renal anomalies leading to organ failure can occur in KS; 2) patients with neonatal sclerosing cholangitis should be examined closely for features of KS; 3) coronal synostosis may occur in KS; and 4) immune deficiency and autoimmune disorder can be associated with KS.

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

Cited by 57 publications

References 11 publications

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

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

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