Clinical and microscopic hair features of griscelli syndrome associated with asymmetric crying facies in an infant.
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 ACF. To the best of our knowledge, this is the 1st case of this association to be reported in the literature.
Akcakus
Mustafa
M
Erciyes University, School of Medicine, Department of Pediatrics, 38039, Kayseri, Turkey. akcakus@erciyes.edu.tr
Koklu
Esad
E
Narin
Nazmi
N
Kose
Mehmet
M
D003448:Crying; D003937:Diagnosis, Differential; D005146:Facial Asymmetry / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D006197:Hair / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D008853:Microscopy; D016116:Piebaldism / Q000150:complications* / Q000175:diagnosis*; D013577:Syndrome