Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

ABSTRACT:

Background

Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome.

Case presentation

We describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Co

SUBMITTER: Siracusano M 

PROVIDER: S-EPMC6477736 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature