Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature

Abstract

Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, and skeletal malformations [1–4]. In this review, two siblings with a combination of clinical, skeletal, ocular, dental and cytogenetic findings are presented in view of SCKL