A New Case - Heterozygote PACS1 Mutation in a Patient with Schuurs-Hoeijmakers Syndrome and a Left Duplex Kidney: Case Report

Dilber B., ACAR ARSLAN E., ÇEBİ A. H., CANSU A.

HONG KONG JOURNAL OF PAEDIATRICS, cilt.26, sa.1, ss.31-33, 2021 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 1
  • Basım Tarihi: 2021
  • Dergi Adı: HONG KONG JOURNAL OF PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.31-33
  • Anahtar Kelimeler: Down-like face, Duplex kidney, PACS1, Typical facial features
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

PACS1 is a rare form of monogenic disorder characterised by intellectual disability, developmental delay, and mild distinctive facial features. The typical facial features include a low hairline on the forehead, eyes that are spaced far apart and slanting downwards, thick eyebrows that may be connected to each other, long eyelashes, large ears that are set low on the head, and gaps between the teeth. Diagnosis is made through a genetic analysis, particularly by whole exome sequencing. Although renal abnormalities are rarely seen in such patients, we present an atypical case of a 33-month-old girl with a left duplex kidney.