Abstract

ANDERSEN, María Soledad et al. Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases. Arch. argent. pediatr. [online]. 2014, vol.112, n.1, pp.26-32. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2014.e13.

Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability. The clinical diagnosis is based on typical facial features, minor skeletal abnormalities, fnger pads, and postnatal growth defcit. Other fndings may include congenital heart disease, genitourinary anomalies, oral clefts, anal atresia, increased susceptibility to infections, autoimmune and endocrine disease and hearing loss. The objective of this paper is to describe two patients with clinical diagnosis of Kabuki syndrome, highlighting the phenotypic fndings and associated malformations.

Keywords : Kabuki syndrome; KMT2D intellectual disability; Body dysmorphic disorders.

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