Article

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

ABSTRACT

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.

Download full-text

Full-text

Available from: Jorge Suarez