|Year : 2020 | Volume
| Issue : 1 | Page : 54-58
Septal aplasia with unilateral cleft lip and palate: A new entity or a variation of the binderoid cleft?
Serena Martin, Chris Hill
Regional Cleft Unit, Royal Belfast Hospital for Sick Children, Belfast, Northern Ireland
|Date of Submission||18-Jun-2019|
|Date of Acceptance||07-Sep-2019|
|Date of Web Publication||20-Jan-2020|
Dr. Serena Martin
Regional Cleft Unit, Royal Belfast Hospital for Sick Children, Grosvenor Road, Belfast
Source of Support: None, Conflict of Interest: None
Congenital septal abnormalities are rare. Septal agenesis in isolation has been described in the literature with scant reports of similar septal anomalies, all of which have presented in adulthood with a request for reconstruction. Mulliken described a rare subset of children with cleft lip and palate associated with nasolabiomaxillary hypoplasia. Although some of these cases were similar to ours, none of the described cases were associated with septal aplasia. We report two cases of septal aplasia in combination with a right unilateral cleft of the lip and palate in two babies <1 year of age. We discuss insights learned for primary repair of the lip and palate in these patients and include preoperative photographs.
Keywords: Binderoid cleft, cleft lip and palate, congenital septal abnormality, septal aplasia, septal hypoplasia
|How to cite this article:|
Martin S, Hill C. Septal aplasia with unilateral cleft lip and palate: A new entity or a variation of the binderoid cleft?. J Cleft Lip Palate Craniofac Anomal 2020;7:54-8
|How to cite this URL:|
Martin S, Hill C. Septal aplasia with unilateral cleft lip and palate: A new entity or a variation of the binderoid cleft?. J Cleft Lip Palate Craniofac Anomal [serial online] 2020 [cited 2020 Jul 6];7:54-8. Available from: http://www.jclpca.org/text.asp?2020/7/1/54/276193
| Introduction|| |
Congenital septal abnormalities are rare. Various nasal abnormalities have been published in the literature in low case numbers including isolated septal hypoplasia, absence of the columella,,, and arhinia. An article by Mulliken et al. in 2003 described a rare subset of patients with cleft lip and palate and associated nasolabiomaxillary hypoplasia. All seven babies with unilateral cleft lip and palate (UCLP) had septal hypoplasia and other nasal abnormalities, but none had septal aplasia. Due to the rare nature of these abnormalities, pearls of wisdom and reconstruction options are not well published, and what little we know comes from case reports and case series. Isolated septal agenesis has been described in the literature by Bakhshaee et al. Scant reports of similar septal anomalies have been reported, but these have all presented in adulthood with a request for reconstruction.,
The awareness of embryology and facial development is a key to understanding the pathology of these cases. The development of the face occurs early, between the 4th and 10th weeks of gestation. During weeks 4–5, five facial prominences are formed which give rise to all facial structures: frontonasal, paired maxillary, and paired mandibular prominences. Two nasal placodes are derived from the frontonasal prominence in the 5th week of gestation; these ultimately form nasal pits which divide the frontonasal prominence into medial and lateral nasal processes. The midline of the nose, medial upper lip, philtrum, and anterior/primary palate are formed in the 6th week by fusion of the medial nasal processes. Fusion of the bilateral maxillary processes to the medial nasal processes also occurs in the 6th week of gestation. This fusion gives rise to the remaining lateral upper lip, the secondary palate posterior to the incisive foramen, and the maxilla. Failure of these processes to fuse at this stage gives rise to cleft lip and associated nasal abnormalities.
We report two cases of septal aplasia in combination with a right unilateral cleft of the lip and palate in two babies <1 year of age. To the best of our knowledge, this combination of septal aplasia with a UCLP has not yet been reported. We discuss insights learned from primary repair of the lip and palate in these patients.
| Case Reports|| |
A 5-month-old baby boy attended the cleft camp in Pakistan with what initially appeared to be a midline cleft and holoprosencephaly. Parental history included a consanguineous cousin marriage. There were no other maternal or paternal risk factors for congenital abnormalities. The baby was born at term through a normal vaginal delivery in hospital and had no perinatal issues [Figure 1], [Figure 2], [Figure 3], [Figure 4].
Due to the diagnosis of a midline cleft and holoprosencephaly, an ultrasound scan of the brain was performed. This was reported as normal. A computed tomography (CT) scan was then performed before surgical intervention due to the associated perioperative risks. The CT scan reported a complete bilateral cleft lip and palate with no visible premaxilla and left oronasal communication. There was widening of bifrontal and anterior interhemispheric cerebrospinal fluid spaces, likely in keeping with benign enlargement of the subarachnoid space in infancy. Following this report, he proceeded to theater.
At the time of surgery, full examination revealed yet again a different diagnosis. The baby had a right UCLP with septal aplasia and not a midline cleft as initially diagnosed nor a bilateral cleft which was diagnosed on CT. An attempt was made to repair the anterior hard palate with a vomerine flap at the time of lip repair, as this is the senior author's preferred technique. Given the aplastic cartilage, this had to be abandoned midprocedure as the vomer consisted of two layers of mucosa only with no intervening cartilage. In addition, the columella was abnormally elongated, and this was deepithelialized and folded over during the lip repair to achieve symmetry.
An 8-month-old baby boy attended the cleft camp in Pakistan during the same week. Similar to the previous case, there was a family history of consanguinity. There were no other maternal or paternal risk factors for congenital abnormalities, and he was born through normal vaginal delivery in hospital at term [Figure 5], [Figure 6], [Figure 7], [Figure 8].
He was initially seen by a local doctor who diagnosed a midline cleft and requested imaging of the brain. Ultrasound scan of the brain was normal. He was then reviewed by the senior author shortly after operating on the patient discussed in case 1. A diagnosis of UCLP with either septal hypoplasia or aplasia was made, and he was booked for surgery that week.
At the time of surgery, full examination revealed a right UCLP. The columella was present and not abnormally located as in case 1. Septal aplasia was once again diagnosed at the time of surgery and we proceeded with repair of the cleft lip only with no attempt to do a vomerine flap.
| Discussion|| |
Cleft lip and palate are one of the most common congenital facial abnormalities around the world. The incidence varies worldwide with rates of one in 1000 births quoted for the United States and Western Europe with higher rates of two in 1000 for babies born in Japan. A paper published on the incidence of cleft lip and palate in Pakistan quoted a rate of one in 523 births. They also noted a high rate of consanguinity, with 32% of cases being born into a consanguineous marriage. Both of the patients in this case series had a family history of consanguinity which is a well-known risk factor for the development of orofacial clefts.
The two cases presented in this case series show how lessons can be learnt on a case-by-case basis and the importance of publishing rare conditions in the literature for other surgeons around the world to learn from. After operating on the first baby in Case 1 and clarifying the diagnosis intraoperatively, it was much easier to diagnose the baby in Case 2 when they attended the outpatient clinic. This prevented the second baby from an unnecessary CT scan and radiation exposure. In the second case, the senior author had no concern regarding the diagnosis of a midline cleft and holoprosencephaly and was happy to proceed to surgery.
There were also intraoperative lessons learnt from Case 1. An attempt was made to repair the anterior hard palate with a vomerine flap which was not possible due to the aplastic septal cartilage, and the procedure was abandoned. This was, therefore, not even attempted in the second case to prevent unnecessary damage to the already fragile mucosal layers. The decision was made to defer the palate repair until a later stage and use veau flaps for repair rather than a vomerine flap.
The so-called “pseudo-median cleft” was previously used to describe babies with hypoplastic nasolabial elements that resembled holoprosencephaly. It was often associated with a challenging primary cleft lip repair, and Mulliken et al. aimed to further describe and define this cohort of babies with a “pseudo-median cleft.” Mulliken et al. performed a retrospective review on a total of 15 babies born over a 20-year period who had a combination of cleft lip and palate with nasomaxillary hypoplasia and orbital hypotelorism. There were seven unilateral and eight bilateral cases in this cohort. The clinical findings were similar to the two cases we have presented, although some features did differ. Mulliken et al. described alar hypoplasia, a short and narrow columella, a small prolabium, absent nasal spine, and septal hypoplasia in the unilateral cases. The two patients we described also had columellar abnormalities, but both had septal aplasia rather than hypoplasia as described by Mulliken et al.
Other differences are also apparent; both the study by Mulliken et al. and a similar study by Noordhoff et al. showed a reversed female-to-male ratio, with twice as many females affected in comparison to the normal cleft lip and palate male predominance. Both babies in our series were male. Other characteristic features described occurred later in childhood in relation to facial growth abnormalities; so, it is not possible to compare these with our two cases currently.,
We consider whether septal aplasia associated with a UCLP is a new entity or if it is a more severe variant of the binderoid cleft. Despite some clinical differences to Mulliken's cohort of patients, insights can still be taken from the long-term follow-up described, including the implications for surgical repair, childhood facial development, secondary surgery requirements, and the high rate of velopharyngeal insufficiency observed in this cohort.,
Only time will tell how these two babies will develop and if they follow the patterns described by Mulliken et al. and Noordhoff et al. Regardless of the pathway, both of these children will require secondary nasal reconstruction in the future. The senior author has previously written a review article on congenital nasal deformities which was based on a case report of a 17-year-old girl with septal hypoplasia rather than aplasia. The preferred reconstruction method for patients with septal hypoplasia in our unit is with dorsal and columellar costal cartilage strut grafts. We plan to use costal cartilage nasal reconstruction in both of these children when growth of the midface has ceased in the future. Interestingly, Mulliken et al. also describe the use of costochondral grafts to improve cosmesis of the nose in his subset of patients, but at a much earlier age of 7–8 years.,,
| Conclusion|| |
Septal aplasia in association with UCLP may be a new entity or possibly a more severe variation of the binderoid cleft. Due to the rare nature of these abnormalities, pearls of wisdom on primary repair and reconstruction techniques are not well published, and what little we know comes from case reports and case series. Only time will tell if these two babies follow a similar pathway to that of the binderoid cleft cohort described by Mulliken et al. Regardless, information gleamed from this cohort can help inform the surgical planning for the future of these two children and other similar cases around the world.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]