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.
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http://dx.doi.org/10.2350/07-02-0228.1 | DOI Listing |
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
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 PDFAesthetic 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.
Pediatr Rev
July 2024
University of North Dakota, Grand Forks, ND.
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