Disease relevance of KMS

• We suggest the possibility that the association of congenital heart disease with Kabuki make-up syndrome may not be fortuitous [1].
• Precocious puberty in Kabuki makeup syndrome [2].
• Neonatal autoimmune syndromes involving endocrine glands include: IPEX/XLAAD/XPID, neonatal hyperthyroidism, Di George syndrome, ALPS, and Kabuki syndrome [3].
• Congenital heart defects in Kabuki syndrome [4].
• Biliary atresia in Kabuki syndrome [5].

Psychiatry related information on KMS

• The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established [6].
• Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study [7].

High impact information on KMS

• Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13 [8].
• Recently, Milunsky and Huang reported on six unrelated patients with a clinical diagnosis of KS and an 8p22-8p23.1 duplication using comparative genomic hybridization and BAC-FISH studies [9].
• We investigated 10 Caucasian patients diagnosed with KS by fluorescence in situ hybridization and microsatellite markers located on 8p22-23 [10].
• However, the present data offer the possibility of testing the involvement of the TUBA2 gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region [11].
• We describe four individuals (two females and two males) with Kabuki syndrome and recurrent dislocation of the patella [12].

Chemical compound and disease context of KMS

• 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 [13].
• A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine [14].

Biological context of KMS

• A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome [15].
• Ring chromosome X in a child with manifestations of Kabuki syndrome [15].
• The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome [16].
• Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression [17].
• We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS [16].

Anatomical context of KMS

• Review of the 143 published cases shows that while malformations may be found in the endocrine, cardiac, genitourinary and skeletal systems, this is the first case of Kabuki syndrome with a major central nervous system malformation [18].
• Inner ear abnormalities in Kabuki make-up syndrome: report of three cases [19].
• Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome [20].
• Defective clavicles in Kabuki syndrome [21].
• Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries [22].

Associations of KMS with chemical compounds

• Occlusal guidance of two Kabuki make-up syndrome patients: case reports [23].

Other interactions of KMS

• No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome [24].
• Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41 [25].
• We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia [26].
• Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy [27].
• Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome [28].

Analytical, diagnostic and therapeutic context of KMS

• Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency [29].
• Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation [9].
• 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 [13].
• Severe congenital anomalies requiring transplantation in children with Kabuki syndrome [13].
• Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome [30].

References