Numerous transverse facial cleft repair techniques and designs have been described; however, a complication of surgical reconstruction is scar formation with brown discoloration. This study investigated the histological basis of the darker white lip at the cleft margin, its role in postoperative brown discoloration, and the potential esthetic benefits of extending the excision. In this retrospective analysis, patients with transverse facial cleft were divided into limited and extended excision groups. Histological assessment of melanin pigment was performed using Fontana-Masson staining, and postoperative buccal scars were evaluated from photographs using the Stony Brook Scar Evaluation Scale. The Mann-Whitney U test was used for statistical analysis. We divided 16 Japanese patients (4 boys and 12 girls) into limited (n = 9) and extended excision groups (n = 7). The cleft length was 8.6 ± 2.1 and 8.9 ± 3.3 mm in the limited and extended excision groups, respectively, with unilateral/bilateral laterality being 9/0 and 6/1, respectively. Initial surgeries for both groups were performed at 11.4 ± 8.4 and 8.3 ± 7.7 months, and scar evaluations were based on photographs obtained at 47.8 ± 13.5 and 27.1 ± 14.2 months, respectively. Histology showed increased melanin in the darker area of the white lip at the cleft margin, with markedly reduced pigment density in the normal-toned area. The extended excision group had less colored scar than the limited excision group (p < 0.05). Incorporating pericleft pigmentation excision into surgical design may reduce postoperative periscar hyperpigmentation and improve esthetic outcomes for several years.

Given its rarity, there are few large-number studies regarding Tessier 7 clefts. A review and classification of 81 Tessier 7 patients who presented to our craniofacial center was performed. The most common Tessier 7 clefts were middle positioned, followed by agenetic, superiorly rotated, and inferiorly rotated clefts, respectively. A total of 77/81 patients had simple macrostomia and 4/81 patients had macrostomia with muscle diastasis. The most common associated anomalies were craniofacial microsomia, skin tags, and ear anomalies occurring in 80%, 71%, and 37% of patients, respectively. In this cohort, the most common subsequent procedures performed in our center were orthognathic surgery (15), fat grafting (11), and facial contouring (7). This information can assist clinicians in patient assessment, family counseling, and refining surgical planning. In this work, we compared our results to other centers by performing a meta-analysis and found we had a higher rate of left-sided clefts, craniofacial microsomia, and simple macrostomia. Our rates of bilaterality and gender distribution were similar to that of other centers. A review of 766 Tessier 7 presentations across 34 recent studies demonstrated unilateral clefts in 84.3% and bilateral clefts in 15.7% overall. Up to 62% of black African patients had bilateral Tessier 7 presentations. There was also increased rates of associated craniofacial microsomia in ethnically Chinese population groups. Overall review of 766 patients demonstrated more right-sided clefts than left, and a slight female preponderance.

Craniofacial microsomia (CFM) presents with variable underdevelopment of craniofacial structures. The clinical severity varies widely and may lead to airway compromise and feeding difficulties in neonates. Herein, we describe a rare case of unilateral CFM with a severe Tessier number 7 cleft, complete mandibular agenesis, ear deformities, and extensive intraoral adhesions. Particularly, adhesions between the tongue and oral mucosa induced a deficiency of reconstructable soft tissue, making the release of the adhesion challenging and complicating the timing of surgical intervention. The patient required tracheostomy for respiratory distress and was fed via a nasogastric tube due to severe Tessier number 7 cleft, which caused significant difficulty with oral feeding. Considering the need for oral feeding and the anatomical challenges, surgical intervention was performed on day 70. The procedure involved removal of intraoral adhesions, separation of the oral cavity from the external face to restore functional integrity, and reconstruction of the oral commissure. This allowed initiation of oral feeding and facilitated aesthetic improvement without complications. This case illustrates a severe form of CFM and highlights the importance of timely, growth-adapted interventions to restore essential functions.

The Tessier number 7 cleft is a rare congenital anomaly making up between 0.3% and 1.0% facial clefts. When combined with a concomitant unilateral cleft lip deformity, we are only aware of 1 previously reported case. We report the presentation, treatment course and long-term follow-up of 3 patients with combined Tessier number 7 cleft, unilateral cleft lip and craniofacial microsomia. All patients received multidisciplinary treatment at our Craniofacial Centre with a minimum follow-up of 29 years. This study demonstrates the phenotype, treatment philosophy, lessons learnt, and principles of reconstruction from birth to adulthood in this patient subset.

Lateral facial clefts are rare and often part of more complex syndromic neurocristopathies. According to Tessier's classification, they correspond to facial cleft numbers 6, 7 and 8. Using micro-computer tomography (micro-CT), we analyzed their underlying bone defects (resolution 50 and 55 µm/voxel) in the context of the known syndrome-specific genetic background. Lateral facial clefts were diagnosed in three severely affected museum specimens representing mandibulofacial dysostosis type Treacher Collins syndrome (TCS), acrofacial dysostosis syndrome of Rodriguez (AFD-Rod) and tetra-amelia syndrome (TETAMS). The TCS specimen mainly showed an absence of the zygomatic bones and most of the lateral maxilla. The AFD-Rod specimen showed an extensive defect of the lateral maxilla, zygomatic bones, and mandible. The TETAMS specimen showed almost isolated agnathia. Possible relationships are discussed between the diverse facial bone defects due to apoptosis of neural crest-derived cells, known to be associated with ribosomopathies and spliceosomopathies, such as TCS and AFD-Rod, and the more targeted bone defects due to genetic variants known to cause TETAMS.