|Year : 2014 | Volume
| Issue : 1 | Page : 55-58
Oropalatal dysplasia: A case report with an innovative sequence of reconstruction
Karoon Agrawal, Sanjay Kumar, Rakesh Kumar Srivastava, Mukund Gupta
Department of Burns, Plastic and Maxillofacial Surgery, Safdarjang Hospital and VM Medical College, New Delhi, India
|Date of Web Publication||5-Feb-2014|
C5A/280, First Floor, Janakpuri, New Delhi - 110 059
Source of Support: None, Conflict of Interest: None
A rare syndromic cleft palate child with microstomia and ankyloglossia is presented. The child presented at 1-month of age with microstomia, complete cleft of the secondary palate, ankyloglossia with dorsal groove of the tongue. There was no family history of oropalatal anomaly. This is a case of Bettex Graf Syndrome. The karyotype was normal 46XY. The reconstructive surgery was delayed to facilitate anesthesia and surgery. The reconstruction was carried out in one stage with an innovative sequence. Microstomia was released using Y-V plasty; palate repair was carried out with Bardach's two flap palatoplasty and ankyloglossia was released with V-Y technique. The child has been followed-up for more than 6 months. Mouth opening is satisfactory, though there is recurrence of microstomia. Child is able to protrude the tongue well, however, it remains grooved.
Keywords: Ankyloglossia, cleft palate, dysplasia, microstomia, syndromic cleft palate, tongue tie
|How to cite this article:|
Agrawal K, Kumar S, Srivastava RK, Gupta M. Oropalatal dysplasia: A case report with an innovative sequence of reconstruction. J Cleft Lip Palate Craniofac Anomal 2014;1:55-8
|How to cite this URL:|
Agrawal K, Kumar S, Srivastava RK, Gupta M. Oropalatal dysplasia: A case report with an innovative sequence of reconstruction. J Cleft Lip Palate Craniofac Anomal [serial online] 2014 [cited 2019 May 26];1:55-8. Available from: http://www.jclpca.org/text.asp?2014/1/1/55/126570
| Introduction|| |
Congenital microstomia is a rare anomaly. Its association with cleft of the secondary palate is an extremely rare combination. This was first described by Bettex et al. in the year 1998.  That is why this syndrome is also known as Bettex-Graf syndrome. There are only three reports of this combination of anomalies with involvement of multiple family members. ,, It is claimed to be associated with the presence of a rare folate sensitive autosomal fragile site at 16q22. ,, A possible linkage to 16q22 and autosomal dominant transmission has been suggested. ,, We are presenting one such case with microstomia, complete cleft of the secondary palate and ankyloglossia with microgenia, without any positive family history in four generations.
| Case Report|| |
The present case report is about a 1-month-old male infant who reported to our clinic for congenital microstomia and cleft palate. This child was the first baby of healthy non-consanguineous young parents. The mother was aged 19 years and the father was 25 years old. The child was full term normally vaginally delivered in one of the hospitals. There was a delay in the cry of the child. The Apgar score was low; however the exact score was not available. The microstomia and cleft palate were noticed at the time of birth.
The parents were motivated to feed the mother's expressed breast milk, which they did. The weight gain was slow but satisfactory. On examination, the child was weighing 2.6 kg at 1 month; there was severe microstomia with 12 mm intercommissure distance [Figure 1]. There was significant microgenia. The intra-oral examination was difficult due to microstomia. It looked as if the tongue tip was bifid and plastered to the floor of mouth [Figure 2]. There was complete cleft of secondary palate up to the incisive foramen with maximum cleft width of 10 mm at the posterior nasal spine region with a high arch palate. The child had no other congenital anomalies and the systemic examination was essentially normal. Detail intra-oral examination was difficult hence it was not possible to comment on the dentition. The family tree was traced to 4 generations. There was no positive family history of any craniofacial anomaly. The antenatal history was unremarkable.
|Figure 2: Pre-operative front view showing grooved dorsum and bifid tip of the tongue|
Click here to view
The child was on regular follow-up. He was immunized as per the institute protocol. At 6 months, the weight of the child was satisfactory. During the follow-up, it was noted that there was a delay in milestones. The tongue tip was bifid and there was a dorsal groove. However, the child was not able to protrude his tongue. Cleft palate repair is usually performed around 6 months of age in our institute.
Due to reduced mouth opening and micrognathia it was considered a case of difficult intubation; hence the anesthetic team and pediatricians suggested delay in surgery. It was hence planned after 12 months of age.
The parents were counseled for the delay in surgery. They were counseled for chromosomal study. With due consent of parents, all the investigations were carried out.
The surgery was ultimately performed at 18 months of age as the parents wanted to avoid any surgical and anesthetic risk. Difficult intubation was anticipated; hence pediatric fiber optic bronchoscope was kept ready in case of need. Correction of microstomia was performed as first surgery. This was performed with bilateral Y-V technique. This facilitated the placement of Kilner Dott mouth gag and a good mouth opening was achieved. Thereafter two long flap Bardach's palatoplasty with intervelar veloplasty and release of tongue tie with V-Y technique were performed in one stage as a routine procedure [Figure 3]. The post-operative period was uneventful. The mouth opening was adequate [Figure 4] and the child was able to protrude the tongue during the immediate post-operative period. The dorsal surface of the tongue was grooved and there was a notch at the tip of the tongue.
|Figure 3: Intra-operative picture with palate mouth gag in place showing release of microstomia using Y-V technique and palatoplasty with Bardach's two long flap technique. There is raw area free closure of the palate|
Click here to view
|Figure 4: 2 week post-operative picture showing good mouth opening and normal intercommissure distance|
Click here to view
Child has been followed-up for 6 months now. The intercommissure distance is 28 mm at rest. This is shorter than the facial canon dimension [Figure 5]. The mouth opening is 25 mm and is adequate. Now a proper intraoral examination was possible. Maxillary ABD on both sides and mandibular AB bilaterally were well erupted. The child is able to protrude the tongue satisfactorily; however, the tongue remains grooved [Figure 6]a and b. The parents have reported normal intelligence and feeding habits at 2 years of age. The chromosomal study revealed normal karyotype 46XY.
|Figure 5: Recurrence of mouth opening. Facial canons have been drawn. AA is the normal intercommissure distance, which was created. BB is the present intercommissure distance after recurrence of microstomia|
Click here to view
| Discussion|| |
A unique case of a rare congenital Oropalatal dysplasia is being presented. This is an isolated case of congenital anomaly in the family. Single stage surgical management of microstomia, cleft palate and ankyloglossia and follow-up outcome are being presented for the first time in literature. This child had microstomia, cleft palate, ankyloglossia, microgenia and grooved tongue. There are only three such reports of association of microstomia with cleft palate in the literature. ,, In all the published literature, autosomal dominance has been reported with involvement of more than one family member. In contrast, our patient is an isolated case in the family and there is no such history in four generations on paternal as well as maternal side. The chromosomal study is essentially normal. We have not been able to perform the deoxyribonucleic acid sequencing due to non-availability of facility. To prove the autosomal dominance chromosomal study of parents and other family members may be required, for which our patient's parents are not willing.
Cleft palate and congenital microstomia are encountered in many other syndromes. Some of them include Schwartz-Jampel syndrome  a rare autosomal recessive skeletal dysplasia, myotonia and oro-dental manifestations; Richieri-Costa-Pereira syndrome  a unique autosomal recessive acrofacial dysostosis with limb deformities and learning disability; Freeman-Sheldon syndrome or whistling face syndrome  associated with cranio-vertebral junction malformation producing dysphagia, multiple skeletal abnormalities, weight loss, microstomia and cleft palate; and a syndrome with microtia, cleft lip/palate, microstomia and holoprosencephaly.  A syndrome with a combination of multiple congenital anomalies (MCA), mental retardation (MR) and symmetrical circumferential skin creases of limbs has been reported with microstomia and cleft palate termed as MCA/MR syndrome. 
The surgical correction was performed in one stage with an innovative sequence. First the microstomia was released. This facilitated the cleft palate repair and ankyloglossia release. In a study done by Olszowska et al.  encountered difficulty during intraoral surgery. They considered the simultaneous reconstruction dangerous, hence both the procedure were performed separately 4 months apart without releasing the microstomia. In the presence of microstomia, intra-oral surgeries for cleft palate repair and correction of ankyloglossia are expected to be difficult. Hence logically it would be better to release the microstomia so that further intra-oral interventions are easier [Figure 5]. With this concept, we corrected the microstomia before repairing the cleft palate and releasing the tongue tie. Our anesthetic and surgical team considered all the interventions in one stage to avoid repeated anesthesia to the child. Simultaneous surgeries for microstomia, cleft palate and tongue tie were considered safe.
The microstomia was corrected after measuring the facial canon. 45 mm of inter commissure distance was created using Y-V technique by everting the cheek mucosa at the commissure. At 6 months follow-up the inter commissure distance has reduced to 28 mm. There is significant recurrence of microstomia. This could have been prevented by using oral splint to prevent recurrence.  However, this child was not co-operative and hence compliance with oral splint could not be achieved.
| Conclusion|| |
An extremely rare congenital facial anomaly has been presented. This patient is different from the cases presented in the literature as there is no family history of any congenial anomaly and the patient does not fit into any of the known syndromes associated with microstomia and cleft palate. The surgical approach is rational and innovative. However, the recurrence of microstomia is a matter of concern.
| References|| |
|1.||Bettex M, Graf B, Winkler B, Gerber-Huber S. Oro-palatal dysplasia Bettex-Graf - A new syndrome. Eur J Pediatr Surg 1998;8:4-8. |
|2.||McKenzie F, Turner A, Withers S, Dalzell P, McGlynn M, Kirk EP. Dominant inheritance of cleft palate, microstomia and micrognathia - Possible linkage to the fragile site at 16q22 (FRA16B). Clin Dysmorphol 2002;11:237-41. |
|3.||Janiszewska-Olszowska J, Gawrych E, Dydyk A, Studniak E, Biaduñ-Pop³awska A, Zaj¹czek S. Oro-palatal dysplasia Bettex-Graf - Clinical findings, genetic background, treatment. J Craniomaxillofac Surg 2013;41:e29-32. |
|4.||Mallineni SK, Yiu CK, King NM. Schwartz-Jampel syndrome: A review of the literature and case report. Spec Care Dentist 2012;32:105-11. |
|5.||Favaro FP, Zechi-Ceide RM, Alvarez CW, Maximino LP, Antunes LF, Richieri-Costa A, et al. Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases. Am J Med Genet A 2011;155A:322-31. |
|6.||Song HR, Sarwark JF, Sauntry S, Grant J. Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. Pediatr Neurosurg 1996;24:272-4. |
|7.||Orioli IM, Castilla EE. Clinical epidemiologic study of holoprosencephaly in South America. Am J Med Genet A 2007;143A:3088-99. |
|8.||Elliott AM, Ludman M, Teebi AS. New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am J Med Genet 1996;62:23-5. |
|9.||Rezak KM, Bouvier A, Olack B, Larumbe JC, Stelnicki E. A novel nonoperative technique in the initial management and treatment of congenital microstomia. Cleft Palate Craniofac J 2012;49:352-6. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]