Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

ABSTRACT:

Background

Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The underlying cause of the syndrome is a submicroscopic deletion in the chromosomal region 9q34.3 or disruption of the euchromatin histone methyl transferase 1.

Case presentation

We describe two Hungarian Kleefstra syndrome patients, one with the classic phenotype of the syndrome, the diagnosis was

SUBMITTER: Hadzsiev K 

PROVIDER: S-EPMC4766673 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature