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
