Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.

ABSTRACT:

Background

Monosomy 1p36 is the most common terminal deletion syndrome with an autosomal dominant pattern of inheritance. This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all patients and about the 90% of patients have a severe intellectual disability. Dental agenesis or other dental anomalies have not been described in previous reports.

Case presentation

We report the case of two little sisters born from healthy and non-consanguineous parents, presenting with dental anomalies and one of them with epilepsy, dilated cardiomyopathy with left-ventricular non-compaction, strabismus, history of poor growth, hypotonia and mild language delay. Patients were evaluated

SUBMITTER: Nistico' D 

PROVIDER: S-EPMC7210666 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature