Introduction

Craniofacial clefts are rare and complex congenital malformations leading to significant aesthetic, functional, and psychosocial repercussions. Walter Dick was the first to describe an oblique facial cleft in 1837 and, since then, several cases have been reported, although in a heterogeneous manner.^1-3 The lack of etiological consensus has historically contributed to inconsistent descriptions and classifications of these abnormalities.⁴

Although the exact incidence of rare craniofacial clefts remains unknown, estimates range from 1.4 to 4.9 per 100 thousand live births.² Etiological factors usually belong to four main categories: maternal infections, maternal metabolic disorders, radiation exposure, and use of teratogenic drugs during the first months of pregnancy.^3,5

In 1976, Tessier⁶ proposed a detailed anatomical classification for facial clefts based on precise anatomical parameters. His numerical system ranges from 0 to 14 and includes the number 30, allowing the identification of the cleft path in soft tissues and the craniofacial skeleton. This system is a milestone in the diagnosis and therapeutic planning of these malformations.

The spectrum of median clefts is broad, ranging from subtle notches in the vermilion of the lip to complete cleft involving bony and soft tissue structures. DeMyer classified these abnormalities into two major groups according to their association withhypoteleorbitismor hyperteleorbitism.⁷ However, there are also rare reports of median cleft lip with normotelorism.

There are scarce reports on median cleft surgical treatment. A thorough investigation of other associated malformations, which are frequently present, is mandatory, as they can severely compromise the child’s overall development. It is crucial to carefully consider these conditions during surgical planning due to their anatomical and functional complexity.

Objective

The current study aims to analyze the different clinical presentations, epidemiological profiles, surgical management, and outcomes of patients with median facial clefts treated at a craniofacial referral center to assist in the standardization of the diagnostic and therapeutic approach.

Materials and Methods

The present retrospective, observational, and descriptive study was conducted at the Center for Treatment and Rehabilitation of Cleft Lip and Palate and Craniofacial Deformities (Centro de Tratamento e Reabilitação de Fissuras Labiopalatais e Deformidades Craniofaciais, CENTRARE, in Portuguese), Hospital da Baleia, in Belo Horizonte, Minas Gerais, Brazil. CENTRARE is a state reference center for the care of patients with craniofacial malformations. The Ethics and Research Committee of the institution approved this study (CAAE 71687023.7.0000.5123).

The study included all patients diagnosed with a median facial cleft, according to the Tessier classification, treated from January 2006 to March 2023. We excluded patients with other types of craniofacial clefts.

We collected data by analyzing medical records. The variables assessed included demographic data, pregnancyrelated factors, family history, genetic factors, clinical characteristics, and surgical aspects. The choice of surgical approach was tailored per cleft location and extent, affected anatomical structures, clinical prognosis, tissue availability, and presence of associated malformations.

The data was organized in an electronic spreadsheet and analyzed it using descriptive statistics. We calculated absolute and relative frequencies for categorical variables, and measures of central tendency and dispersion for continuous variables, such as age.

Results

This case series had 12 patients, including 33.3% male (n ¼ 4) and 66.6% female subjects (n ¼ 8).

Risk factors for the development of congenital malformations during pregnancy were present in 58.33% of cases (n ¼ 7), including 25% (n ¼ 3) with maternal metabolic disorders (gestational diabetes), 25% (n ¼ 3) with medication use, and 8.33% (n ¼ 1) with parental consanguinity. A family history of cleft lip and palate was observed in 33.3% (n ¼ 4). ►Table 1 shows the demographic characteristics and risk factors of the cohort.

Table 1 - Demographic profile and risk factors

Among all patients included inthestudy, 91.66% (n ¼ 11) had associated abnormalities. The cleft presentation and associated abnormalities were diverse (►Table 2). It is worth noting that the most commonly found anomaly was complex brain malformation resulting from incomplete prosencephalon cleavage (holoprosencephaly), with a total of 41.66% cases (n ¼ 5).

Table 2 - Cleft presentation, associated abnormalities, and surgical approaches

The age at the first surgical approach ranged from 6 months to 1 year. A total of 3 patients (25%) did not undergo the procedure due to the presence of associated severe malformations, and 1 patient had not yet reached the minimum age needed during the study period. Furthermore, 2 patients (16.6%) died; one underwent cheiloplasty at 6 months died at age 6 and the other did not undergo any surgical procedure.

Discussion

Fogh-Andersen⁸ reported an incidence of one rare for 300 common clefts. The most affected subjects are males and Caucasians. Furthermore, 75% of patients with rare facial clefts present other abnormalities.⁷ In our study, these statistics were divergent, as most patients were females and 91.66% of cases had other associated malformations.

The development mechanism of Tessier’s median clefts is not fully understood, but they appear around the third week of gestation.⁹

During embryogenesis, there is a failure to fuse the two medial nasal processes, potentially leading to a minimal notch in the upper lip and vermilion and a slight bifidity in the nasal tip (►Figs. 1-2) up to agenesia (►Fig. 3) or complete division and duplication of midfacial structures.¹⁰ The median cleft (Tessier’s 0) can be true¹¹ or false.¹² A true median cleft occurs between the median globular processes; the lip appears as an enlarged band, with double labial frenum (►Fig. 4) and diastema between the incisors (►Fig. 5).⁶ The observation of a wide columella, laterally displaced alar cartilages, and a bifid nasal tip is common. The nasal bones undergo lateral displacement. Shortening of the central height of the face and orbital hypertelorismare present,⁶ as can be seen in ►Fig. 6.

Fig. 1 - Minimal notch in the upper lip and vermilion: (A) preoperative surgical marking; (B) immediate postoperative period; (C) late postoperative period.

Fig. 1 - Minimal notch in the upper lip and vermilion: (A) preoperative surgical marking; (B) immediate postoperative period; (C) late postoperative period.

Fig. 2 - Minimal notch in the upper lip and vermilion: (A) preoperative surgical marking; (B) immediate postoperative period; (C) late postoperative period.

Fig. 2 - Minimal notch in the upper lip and vermilion: (A) preoperative surgical marking; (B) immediate postoperative period; (C) late postoperative period.

Fig. 3 - Nasal agenesis.

Fig. 3 - Nasal agenesis.

Fig. 4 - Double labial frenulum.

Fig. 4 - Double labial frenulum.

Fig. 5 - Diastema between the incisors and the cleft palate.

Fig. 5 - Diastema between the incisors and the cleft palate.

Fig. 6 - Bifid nose, broad columella, laterally displaced alar cartilages, hypertelorism: (A) frontal and (B) bottom views.

Fig. 6 - Bifid nose, broad columella, laterally displaced alar cartilages, hypertelorism: (A) frontal and (B) bottom views.

The false median cleft may present with an almost total absence of the philtrum and premaxilla, extending to the floor of the nose. Moreover, the columella does not form or is rudimentary with varied presentations (►Figs. 7-9). A cleft palate may be present (►Fig. 5), in addition to ocular abnormalities, brain anomalies, and absence of cranial integument. Bone deficiency results in hypotelorism or cyclopia.⁶

Fig. 7 - Median cleft lip with absence of nasal septum and premaxilla: (A) preoperative period; (B) intraoperative aspect; (C) immediate postoperative period.

Fig. 7 - Median cleft lip with absence of nasal septum and premaxilla: (A) preoperative period; (B) intraoperative aspect; (C) immediate postoperative period.

Fig. 8 - Absence of premaxilla with rudimentary columella. Median cleft lip and palate with lip, nose, maxilla, palate, and brain involvement: (A) preoperative period; (B) late postoperative period.

Fig. 8 - Absence of premaxilla with rudimentary columella. Median cleft lip and palate with lip, nose, maxilla, palate, and brain involvement: (A) preoperative period; (B) late postoperative period.

Fig. 9 - Absence of premaxilla with rudimentary columella. Median cleft lip and palate with lip, nose, maxilla, palate, and brain involvement: (A) preoperative period; (B) late postoperative period.

Fig. 9 - Absence of premaxilla with rudimentary columella. Median cleft lip and palate with lip, nose, maxilla, palate, and brain involvement: (A) preoperative period; (B) late postoperative period.

Tessier’s cleft 14 features cranial abnormalities with marked hyperor hypoteleorbitism, forming a midline craniofacial dysraphism. It can cause agenesis of a cranial segment or excessive tissue. Hypertelorism laterally displaces the orbits. Cranial and nervous system abnormalities are extreme and can often limit the life of patients.^6,13 In our study, 16.6% (n ¼ 2) patients died with severe cranial anomalies.

These several facial phenotypic variations also affect the nasal anatomy, including duplicated or absent nasal septum, short and wide columella, flat dorsum, agenesis or separation of nasal bones, and nasal tips with no projection or definition. This diverse presentation requires individualized surgical approaches. Patients’ age at first surgery also depends on the severity and prognosis of each case.^10,14 In clefts with significant nasal agenesis, surgical intervention of the lips and nose is recommended after 12-months-old, when the baby begins to adopt an oral breathing pattern. In cases with associated holoprosencephaly, surgical intervention after 1-year-old is also recommended due to the life expectancy of these patients.

Proper structural development improves the anatomical shape of facial components, facilitating repairs and allowing greater accuracy in approximations. In the first stage, corrections are limited to the soft tissues. The correction of deformed bone structures occurs later, according to each patient and their prognosis,^14,15 waiting for facial skeleton growth.

In our study, 33.3% of patients (n ¼ 4) had a family history of cleft lip and palate, which reinforces the potential genetic influence on the etiology of the condition. This finding is consistent with data from other reference centers for clefts in the national literature, as evidenced in a study by the Hospital de Reabilitação de Anomalias Craniofaciais from Universidade de São Paulo indicating that 32.3% of patients reported the presence of at least one other subject with cleft in the family.¹⁶ It is noteworthy that the most severe forms of cleft appear to have a greater hereditary influence compared with less complex types, although this association still requires further investigation for confirmation.

Our results showed a direct correlation was observed between the severityof the craniofacial cleft and the qualityof the postoperative aesthetic outcome, which was inversely proportional to the severity of the cleft. These findings are consistent with evidence from other Brazilian centers specialized in cleft treatment,¹⁷ like the Hospital de Pediatria Professor Heriberto Bezerra from Universidade Federal do Rio Grande do Norte, and international institutions, such as the Burns & Plastic Surgery Center, Hayatabad Medical Complex, in Peshawar, and Saidu Hospital, Saidu Medical College, in Swat, both in Pakistan.¹⁸

Conclusion

As median clefts are rare and have multiple presentations, their treatment is a challenge, employing a wide range of resources due to the peculiar characteristics of each case. Thei planning is individualized, always considering the severity and prognosis of each case and surgical risks and benefits. Surgical intervention should be guided by facial anatomy restructuring by the reconstruction of nasal floor components, lip contour, and nasal projection, sparing the functions of feeding and breathing. Multidisciplinary care with psychologists, nutritionists, speech therapists, and professionals from dentistry, neurosurgery, otorhinolaryngology, and plastic surgery is essential for therapeutic success and treatment continuity.