Pallister–Killian syndrome in a two‐year‐old boy. Issue 6 (8th April 2017)

• Record Type: Journal Article
• Authors: Stone, Leigh; Tripuraneni, Ramya; Bain, Michelle; Hernandez, Claudia
• Is Part Of: Clinical case reports. Volume 5:Issue 6(2017)
• Page Start: 774
• Page End: 777
• Publication Date: 2017-04-08
• Subjects: Developmental defects -- dyspigmentation -- Pallister–Killian syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.892
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Pallister–Killian syndrome (PKS) is a rare, sporadic, multisystem developmental disorder characterized by craniofacial dysmorphic features. We report a case of a two‐year‐old boy with PKS to highlight the cutaneous findings and emphasize the importance of diagnostic skin biopsies in patients with cutaneous pigmentation changes and distinctive facial features. Abstract : Pallister–Killian syndrome (PKS) is a rare, sporadic, multisystem developmental disorder characterized by craniofacial dysmorphic features. We report a case of a two‐year‐old boy with PKS to highlight the cutaneous findings and emphasize the importance of diagnostic skin biopsies in patients with cutaneous pigmentation changes and distinctive facial features.