Meester-Loeys Syndrome

Clinical Characteristics

Ocular Features:

A variety of nondiagnostic facial features are present at birth including hypertelorism, downward slanting lid fissures, proptosis, frontal bossing, and midface hypoplasia.

Systemic Features:

Aortic aneurysms with or without dissection have been diagnosed as early as 1 year of age but may not be apparent until teenage years. Pectus deformities, joint hypermobility, and skin striae may be seen. Hypertrichosis, evidence of skeletal dysplasia such as hip dislocation, platyspondyly, phalangeal dysplasia, joint hypermobility, relative macrocephaly, dysplastic epiphyses of the long bones, and cervical spine instability are often present.

Genetics

This X-linked disorder is caused by a mutation in the BGN [1] gene (Xp28). No male-to-male transmission has been reported although both sexes are affected.

Treatment

Treatment Options:

Individual deformities might be surgically repaired.

References

Article Title:

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections [2]

Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med. 2016 Sep 15. doi: 10.1038/gim.2016.126. [Epub ahead of print].

PubMed ID:

27632686