Congenital Midline Cervical Cleft: A Variant of Tessier Number 30 Cleft Causing Micrognathia

Abstract

Congenital midline cervical cleft is a rare and generally isolated malformation of the ventral neck region with no clear etiology established. Mandibular deformities, such as micrognathia, could be considered as a consequence of a cleft cervical contracture. Complete surgical excision of the subcutaneous fibrous cord at an early age is the primary treatment modality, minimizing growth development problems on surrounding affected tissue. The aim of this study is to describe the clinical, surgical, and histological findings in a female child with congenital midline cervical cleft along with a relevant literature review. Three years follow-up after surgery exhibited satisfactory functional and cosmetic results.

Congenital Midline Cervical Cleft and Thyroglossal Duct Fibrous Cord-Like, is There a Mixed Presentation?

“…Congenital midline cervical clef is a rare congenital disease that is considered a variant of the cleft category number 30 of the Tessier classification system of craniofacial defects. 5,9 CMCC is diagnosed by clinical examination, and its main feature is a congenital cleft scar at birth associated with a protruding lesion at the midline of the anterior region of the neck, between the chin and the suprasternal notch. 1,3,11,12 This disease may present with atrophy of the skin at any level between the chin and sternal notch; a nipple-like projection (skin tag) at the upper end of the fissure; a blind sinus tract at the caudal aspect, which may discharge mucoid material; and a subcutaneous cord-like fibrous thickening that may cause webbing.…”

“…The regional site of the sinus tract is important in distinguishing CMCC from a thyroglossal fistula, as the tract extends caudally in the former and cranially in the latter. 3,5,9,13 Malformations in the thyroid gland and mandible such as bifid mandible and micrognathia 2,6,8,10,13 were also ruled out and the presence of a fibrotic thyroglossal duct-like with no blind sinus at the lower portion of the scar gave to this case a singular presentation offering characteristics of the CMCC and the thyroglossal duct fistula at the same time what made the medical team organize a treatment strategy including both.…”

“…3 In this regard, a complex situation where the use of the pharyngeal bulb has been described is in cases of velopharyngeal hypodynamism, 4 characterized in the endoscopic or fluoroscopic examination as a weak velopharyngeal movement, a gap that exceeds 50% of the velopharyngeal space at rest, or an antagonistic movement of the lateral walls of the pharynx during oral speech. 4,5 Pegoraro-Krook et al (2009), 6 highlight that a major contraindication for the confection of a prosthesis is the lack of trained professionals. Moreover, surgical success in VPI surgery is associated with the surgeons' experience, which stems from a need to surpass the steep learning curve associated with this intervention.…”

“…1,4 It is recognized as a variant of cleft 30 of Tessier classification system of craniofacial clefts and some studies show that genetic analysis with exome sequencing revealed new single nucleotide variants in family members, so a specific pattern of inheritance may exist. 1,2,5 Diagnosis is generally performed at birth because its remarkable presentation as a scar defect at the ventral cervical skin. Classically, there is a midline craniocaudal scar from the chin to the end of the neck, with a skin tag superiorly and a short sinus on its inferior margin, generally with 1.0 to 1.5 cm length.…”

“…The first recorded case of CMCC was done by Luchka in 1848 and Bailey first documented this abnormality in 1924 1,4 . It is recognized as a variant of cleft 30 of Tessier classification system of craniofacial clefts and some studies show that genetic analysis with exome sequencing revealed new single nucleotide variants in family members, so a specific pattern of inheritance may exist 1,2,5 . Diagnosis is generally performed at birth because its remarkable presentation as a scar defect at the ventral cervical skin.…”