Pediatric and Developmental Pathology

Article: pp. 63–65 | Full Text | PDF (518K)

Clinical and Microscopic Hair Features of Griscelli Syndrome Associated with Asymmetric Crying Facies in an Infant

Mustafa Akcakus*, Esad Koklu, Nazmi Narin, and Mehmet Kose

Erciyes University, School of Medicine, Department of Pediatrics, 38039, Kayseri, Turkey

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.

Keywords: asymmetric crying facies, Griscelli syndrome, infant

Received: February 5, 2007; Accepted: June 13, 2007; Published Online: June 13, 2007

DOI: 10.2350/07-02-0228.1

*Corresponding author, e-mail: akcakus@erciyes.edu.tr

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