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Oblique Facial Clefts 

Oblique Facial Clefts
Chapter:
Oblique Facial Clefts
Author(s):

Valeriy Shubinets

, Richard L. Maas

, and Eric C. Liao

DOI:
10.1093/med/9780199934522.003.0188
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date: 28 February 2021

Tessier 4 clefts belong to a rare group of craniofacial malformations known as oblique facial clefts (ObFCs), which also include Tessier clefts 3 and 5. In contrast to the more common cleft lip and palate, ObFCs account for only 0.25% of all orofacial clefts. Extending from the upper lip to the eye, ObFCs are usually more severe than cleft lip and palate and represent a major challenge in terms of surgical repair. This chapter describes the clinical manifestations, classification, diagnosis, surgical treatment, and pathogenesis of ObFCs. Particular emphasis is placed on the recent identification of SPECC1L as a causative or contributory locus for Tessier 4 clefts. SPECC1L encodes a novel cytoskeletal protein that in mammalian cell assays co-localizes with tubulin and actin. Its deficiency leads to defective cell adhesion and migration. As the first gene implicated in Tessier 4 clefts, SPECC1L represents an important clue to understanding the mechanism that undelies this rare condition.

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