Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature
Göster/ Aç
Erişim
info:eu-repo/semantics/openAccessTarih
2015Yazar
Kılıç, Fatma ArzuÇakmak, Seray Kulcu
Tuncalı, Timur
Koz, Özlem
Özhamamci, Esra
Yasun, Oztan
Artuz, Ferda
Üst veri
Tüm öğe kaydını gösterÖzet
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