Neonatal Permanent Jaw Constriction Because of Oral Synechiae and Pierre Robin Sequence in a Child With van der Woude Syndrome

Abstract

To report a newborn with van der Woude syndrome, Pierre Robin sequence, and oral synechiae. Pierre Robin sequence is a rare manifestation of van der Woude syndrome as are oral synechiae. We speculate that the oral synechiae may be causally related to the development of Pierre Robin sequence in this patient.

Congenital fusion of the jaws

“…Genetic, teratogenic, or physical insults during this period also may lead to prolonged contact between oral structures, thereby, leading to abnormal fusion. [8][9][10][11][12][13][14] Others feel that adhesions may be remnants of the buccopharyngeal membrane. 15-16 Fhurmann 17 found a hereditary link in 5 family members with cleft palates and synechiae.…”

Congenital alveolar synechiae — a case report

“…2 In our review of the literature, a further nine cases of congenital alveolar synechiae have been reported in addition to the 52 cases of alveolar synechiae considered by Gartlan et al [5][6][7][8][9] It was reported that only one of these was isolated congenital alveolar synechiae, 9 the other eight being seen together with such syndromes as Van der Woude, cleft palate alveolar synechiae and oromandibular limb hypogenesis syndrome. [5][6][7][8] The cause of synechiae is still unknown. During the seventh to eighth week of embryological development, the alveolar ridges, tongue and palatal shelves are in contact with each other.…”

Cleft palate lateral synechia syndrome: An opportunity for unique surgical closure

“…Its incidence is reported to be between 1:35,000 to 1:100,000 [29,30]. Its mode of inheritance is thought to be autosomal dominant with very high penetrance and variable expression [30,31]. VWS is the second most common cause of syndromic clefts, second only to chromosome 22q11 microdeletions [31].…”

“…Its mode of inheritance is thought to be autosomal dominant with very high penetrance and variable expression [30,31]. VWS is the second most common cause of syndromic clefts, second only to chromosome 22q11 microdeletions [31]. It has recently been linked to mutations in the interferon regulatory factor 6 (IRF6) on chromosome band 1q32.2 [3,32].…”