Congenital Midline Cervical Cleft: A very rare clinical entity

Congenital midline cervical cleft is an extremely rare anterior neck defect. We describe a case of a male newborn with midline cervical cleft outlining aspects of diagnosis and stressing the importance of early diagnosis and surgical treatment.

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

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.

Midline Cervical Cleft: An Anatomical Finding and a Proposal for a New Approach

Congenital midline cervical cleft is a rare malformation. Typical case shows an area of hypotrophic skin, a cranial nipple-like structure, and a caudal blind sinus. Cervical extension is limited. Relapse of the retraction is common following cutaneous z-plasty. The aim of this study is to describe the radiological, surgical, and histological findings of the 4 cases treated in our center in the last 8 years and communicate the finding of a contractile structure, anterior to the platysma, composed by striated muscle, figure not previously described. This distinct muscular band is responsible for neck retraction. Removal of this releases cervical tension and is essential to avoid the relapse.

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients

Objectives: Congenital midline cervical cleft (CMCC) is a rare congenital anterior neck anatomical anomaly. We present the case of two related patients (grandchild and maternal grandmother) who were both born with a congenital midline cervical cleft along with genetic analysis. Methods: Clinical examination of both patients and surgical excision of the grandchild was performed. Genetic analysis with exome sequencing (ES) was conducted for both patients. Results: Genetic analysis with exome sequencing (ES) revealed apparently novel single nucleotide variants in 66 genes present in both proband and grandmother. Five of these variants are predicted to cause frameshifting in the coding region of the respective genes and truncated proteins ( OVGP1, TYW1B, ZAN, SSPO, FOLR3). Two of these genes ( TYW1B and SSPO) have homozygous indel mutations in both patients. Conclusions: To our knowledge, this is the first case of two related patients with a congenital midline cervical cleft. The results of our genetic analysis reveal potential relevance to CMCC development.

Midline cervical cleft: a case report

A 14-year-old boy presented with complaints of a sinus in the middle of neck, with mucoid discharge present since birth. MRI sinogram along with MRI neck was taken which revealed a sinus tract opening in midline, extending posteriorly and traversing inferiorly to end blindly above sternum. Patient was planned for an elective excision of sinus tract, with z-plasty for decreased scarring. Congenital midline cervical cleft is a rare entity that was first described in 1924. Subsequently there have been fewer than 100 cases reported in medical literature. It typically manifests at birth as a cleft at level of suprasternal notch with a pseudonipple above it. Pathogenesis of congenital midline cervical clefts remains speculative. Differential diagnosis includes thyroglossal duct cysts or branchial cleft anomalies.