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.

Download full-text PDF

Source
http://dx.doi.org/10.2350/07-02-0228.1DOI Listing

Publication Analysis

Top Keywords

asymmetric crying
12
crying facies
12
clinical microscopic
8
microscopic hair
8
hair features
8
griscelli syndrome
8
features griscelli
4
syndrome associated
4
associated asymmetric
4
facies infant
4

Similar Publications

The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.

View Article and Find Full Text PDF

Evaluation of Facial Symmetry in Congenital Unilateral Lower Lip Palsy Patients with Depressor Labii Inferioris Muscle Resection.

Aesthetic Plast Surg

December 2024

Plastic Surgery Department, China-Japan Friendship Hospital, No. 2 Cherry Garden East Street, Chaoyang District, Beijing, 100029, China.

Background: Congenital hypoplasia of the depressor labii inferioris muscle can lead to Asymmetrical crying facies(ACF). The objective of this research was to examine the alterations in both static and dynamic facial symmetry following the resection of the depressor labii inferioris on the healthy side through an intraoral approach.

Methods: Patients exhibiting palsy of the depressor labii inferioris muscles were included in the study.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!