Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 10  |  Issue : 2  |  Page : 24-25

Van Der Woude syndrome and choanal atresia: Any association? A case report


1 Department of Surgery, Federal Teaching Hospital Gombe, Nigeria
2 Department of Ear, Nose and Throat, Federal Teaching Hospital Gombe, Nigeria
3 Division of Paediatric Surgery, University of Ilorin Teaching Hospital, Nigeria

Date of Web Publication15-Apr-2015

Correspondence Address:
Zainab Yunusa Kaltungo
Department of Surgery, Federal Teaching Hospital, Gombe
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0794-9316.155187

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  Abstract 

Common features of Van der Woude syndrome include pits and or sinuses of the lower lip, cleft lip with or without cleft palate, isolated cleft palate, bifid uvula, and hypodontia. When associated with a web of the popliteal region, it is called popliteal pterygium syndrome. Here we present a case of popliteal pterygium syndrome with incidental finding of membranous type choanal atresia on attempt at nasotracheal intubation for general anesthesia.

Keywords: Choanal atresia , popliteal pterygium syndrome, Van der Woude syndrome


How to cite this article:
Kaltungo ZY, Ali A, Nasir AA. Van Der Woude syndrome and choanal atresia: Any association? A case report. Nigerian J Plast Surg 2014;10:24-5

How to cite this URL:
Kaltungo ZY, Ali A, Nasir AA. Van Der Woude syndrome and choanal atresia: Any association? A case report. Nigerian J Plast Surg [serial online] 2014 [cited 2019 Jun 17];10:24-5. Available from: http://www.njps.org/text.asp?2014/10/2/24/155187


  Introduction Top


Van der Woude syndrome (VWS) is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity, occurring in about 1 of every 40,000 people Froster-Iskenius, 1990. [1]

It is characterized by pits and/or sinuses of lower lip, cleft lip with or without cleft palate, isolated cleft palate, bifid uvula, and hypodontia. [2] Pits are usually bilateral but may be unilateral or centrally placed on the vermilion border of the lower lip. Hypodontia is only rarely observed. Congenital lower lip sinuses have been reported in about 0.001% of the population and 85% of individuals with VWS have lower lip pits, and 65-75% of the cases are associated with cleft lip and palate. [3]

We report an interesting case of (popliteal pteryguim syndrome) PPS with characteristic orofacial features along with an unusual additional finding of choanal atresia in a 7-month-old male child.


  Case Report Top


A 7-month old male child was referred to our facility with cleft lip and right knee deformity noticed since birth. He was delivered at term to a 30-year-old mother by spontaneous vaginal delivery following an uneventful full-term pregnancy with no exposure to radiation. The family history did not reveal consanguineous marriage of his parents. There is no family history of related abnormalities.

Clinical examination revealed a right unilateral complete cleft of the lip and alveolus, [Figure 1] bilateral complete cleft of the palate, lower lip pits persistently filled with saliva, and right popliteal pterygium [Figure 2]a and 2b. The working diagnosis was popliteal pterygium syndrome. No echocardiography was done in this patient to rule out any cardiac defect.
Figure 1: Right unilateral complete cleft of the lip and lower lip pits

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Figure 2: (a) Right popliteal pterygium. (b) Right popliteal pterygium

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He was planned for staged surgical repairs (cleft lip repair in the first stage, popliteal pterygium repair in the second stage and repair of palatal cleft at the third and last stage). During the initial lip repair, the child could not attain sufficient arterial oxygen saturation prompting premature termination of the surgery with a plan to repair the popliteal pterygium and redo the lip repair at the next surgery. At this surgery like in the first, he had endotracheal intubation. There was a similar difficulty with maintaining arterial oxygen saturation at the second surgery and a nasotracheal intubation was attempted. Inability to pass a nasotracheal tube by our anesthetists led to suspicion of choanal atresia, diagnosis of which was confirmed by a post nasal space x-ray.

A membranous left choanal atresia was confirmed under general anesthesia and this was perforated, dilated, and a rubber tube stent was put in place to maintain patency. The child was doing well at follow up at the outpatient clinic and was being prepared for surgical repairs in order to complete the other stages of surgeries as outlined. Unfortunately, the baby and his family have been lost to follow up.


  Discussion Top


Orofacial manifestations of popliteal pterygium syndrome (PPS) include cleft lip, with or without a cleft palate, lower lip pits, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. [3] VWS and popliteal pterygium syndrome represent two ends of the spectrum of IRF-6 (interferon regulatory factor 6)-related disorders. [4],[5] PPS cases with similar features have been previously reported by Donelly, et al. [6] and Vandeweyer et al. [7]

Extraoral manifestations include limb anomalies, popliteal webs (which was present in this patient), accessory nipples, congenital heart defects, and Hirschsprung disease.

Worldwide the figures quoted for incidence of VWS varies widely depending on the region. Fogh-Anderson in 1961 quoted 0.37%, 6% was reported by Shprintzen et al., [8] in 1980 and Huang et al. [9] from Chang Gung found an incidence of 0.73-0.98% per 100,000 in their report.

We present here a case of PPS with associated choanal atresia. PPS cases with similar features have been previously reported in the literature. Peculiarity of this case is the finding of a (membranous) choanal atresia with repeated episodes of inability to achieve adequate arterial oxygen saturation under anesthesia with endotracheal intubation.

The major challenges faced in managing this case include the difficulty in achieving adequate arterial oxygen saturation which led to an increase in the number of surgeries the patient would have otherwise undergone. So far, he has been put under anesthesia three times and will still need to undergo further surgeries to repair the cleft lip that had to be suspended prematurely, and palatal repair.

The take home message is for cleft surgeons and management team to be aware that there might be additional clinical features such as choanal atresia in individuals with popliteal pterygium syndrome. This is particularly important in instances where there are difficulties with nasotracheal intubation or maintaining adequate arterial oxygen saturation in such patients.

 
  References Top

1.
Froster-Iskenius UG. Popliteal pterygium syndrome. J Med Genet 1990;27:320-6.  Back to cited text no. 1
    
2.
Rizos M, Spyropoulos MN. Van der Woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counseling and treatment. Eur J Orthod 2004;26:17-24.  Back to cited text no. 2
    
3.
Burdick AB, Bixler D, Puckett CL. Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol 1985;5:181-208.  Back to cited text no. 3
[PUBMED]    
4.
Durda KM, Schutte BC, Murray JC. IRF6-Related disorders. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. Gene Reviews™. Seattle (WA): University of Washington. Available from: http://www.ncbi. nlm.nih.gov/books/NBK1407/. [Last accessed on 2013].  Back to cited text no. 4
    
5.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gaines LA, Even D, et al. Novel IRF6 Mutations in Families with Van Der Woude Syndrome and Popliteal Pterygium Syndrome from Sub-Saharan Africa. Mol Genet Genomic Med 2014;2:254-60.  Back to cited text no. 5
    
6.
Donnelly LF, Emery KH, Do TT. MR imaging of popliteal pterygium syndrome in pediatric patients. AJR Am J Roentgenol 2002:178:1281-4.  Back to cited text no. 6
    
7.
Vandeweyer E, Urbain FC, DeMey A. Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia. Br J Plast Surg 2000;53:65-7.  Back to cited text no. 7
    
8.
Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van Der Woude syndrome: Implications for genetic counseling. Cleft Palate J 1980;17:52-7.  Back to cited text no. 8
[PUBMED]    
9.
Huang JJ, Hou JW, Tan YC, Chen KT, Lo LJ, Chen YR. Van der Woude syndrome: Clinical presentation in 64 patients. Cleft Palate Craniofac J 2007;44:649-52.  Back to cited text no. 9
    


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