Clinical and microscopic hair features of Griscelli syndrome associated with asymmetric crying facies in an infant

akcakuş M., köklü E., NARİN N., KÖSE M.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, cilt.11, sa.1, ss.63-65, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.2350/07-02-0228.1
  • Dergi Adı: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.63-65
  • Anahtar Kelimeler: asymmetric crying facies, Griscelli syndrome, infant, ANGULI ORIS MUSCLE, CONGENITAL HYPOPLASIA, PARTIAL ALBINISM, ANOMALIES, DISEASE, IMMUNODEFICIENCY, DELETION
  • Erciyes Üniversitesi Adresli: Evet

Özet

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism. Asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Asymmetric crying facies may be isolated or it may be associated with various anomalies. We report a 3-month-old Turkish boy who had clinical and microscopic hair features of GS associated with ACE To the best of our knowledge, this is the 1st case of this association to be reported in the literature.