RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

Abstract

Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient.

Keywords: Pakistani family; RBBP8; anonychia; consanguineous; inbreeding coefficient; intellectual disability; mental retardation; microcephaly; mutation; short stature.