Kabuki syndrome

Grupo de Investigación en Genética Clínica, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Santander, Colombia.
Anales de Pediatría (Impact Factor: 0.83). 03/2012; 77(1):51-6. DOI: 10.1016/j.anpedi.2012.01.016
Source: PubMed


Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with mental retardation. Patients have minor and major abnormalities in different systems. Its genetic basis is heterogeneous, but recently has been associated with mutations in gen MLL2.
We present two patients with clinical features compatibles with the syndrome, mainly: large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, flat nose, persistent fingertip pads, cardiopathies and renal anomalies.
The diagnosis of this condition is clinical. The characteristics in the cases are compared with the patients reported in the literature. The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.

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Available from: Jorge Suarez, Oct 02, 2015
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    ABSTRACT: Kabuki syndrome (KS) is a rare, congenital mental retardation syndrome. The aetiology of KS remains unknown. Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. In one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exon 5 of C20orf133. The function of this gene is unknown. In situ hybridisation with the mouse orthologue of C20orf133 showed expression mainly in brain. The de novo nature of the deletion, the expression data and the fact that C20orf133 carries a macro domain, suggesting a role for the gene in chromatin biology, make the gene a likely candidate to cause the phenotype in this patient with KS. Both the finding of different of chromosomal rearrangements in patients with KS features and the absence of C20orf133 mutations in 19 additional patients with KS suggest that KS is genetically heterogeneous.
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    ABSTRACT: Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition.
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    ABSTRACT: 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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