Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.

ABSTRACT:

Background

Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.

Case presentation

Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for sh

SUBMITTER: Tao DY 

PROVIDER: S-EPMC9375425 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature