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CASE REPORT
Year : 2011  |  Volume : 29  |  Issue : 4  |  Page : 333-335
 

Popliteal pterygium syndrome: Orofacial and general features


Department of Pedodontics with Preventive Dentistry, Faculty of Dental Sciences, CSM Medical University, Lucknow, Uttar Pradesh, India

Date of Web Publication21-Oct-2011

Correspondence Address:
S K Bahetwar
C/o, Department of Pediatric and Preventive Dentistry, SDKS Dental College and Hospital, Hingna, Nagpur. Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.86382

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   Abstract 

This report describes the case of a 13-year-old Indian boy with popliteal pterygium syndrome. The popliteal pterygium syndrome is an extremely rare hereditary disorder thought to occur with an incidence of approximately 1 in 300000 live births. It is a congenital malformation syndrome affecting the face, limbs, and genitalia with highly characteristic features, including popliteal webbing, cleft palate (with or without cleft lip), lower lip pits, syndactyly, and genital and nail anomalies. This patient was referred to our department because of complaints of pain in the mouth and poor oral health. The orofacial findings included cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. In this syndrome, the orodental problems are overshadowed by the major syndromic manifestations but nevertheless need appropriate management. These patients have special dental needs and early diagnosis of the affected children is therefore important in order to initiate preventive dental care and carry out appropriate dental treatment at the optimal time.


Keywords: Cleft lip and palate disorder, genetic disorder, popliteal pterygium syndrome


How to cite this article:
Bahetwar S K, Pandey R K, Bahetwar T S. Popliteal pterygium syndrome: Orofacial and general features. J Indian Soc Pedod Prev Dent 2011;29:333-5

How to cite this URL:
Bahetwar S K, Pandey R K, Bahetwar T S. Popliteal pterygium syndrome: Orofacial and general features. J Indian Soc Pedod Prev Dent [serial online] 2011 [cited 2019 May 22];29:333-5. Available from: http://www.jisppd.com/text.asp?2011/29/4/333/86382



   Introduction Top


The popliteal pterygium syndrome (PPS) is an inherited disorder affecting the face, limbs, and genitalia. The syndrome shows highly variable clinical features and has a wide range of expressivity even within families but it includes commonly orofacial, cutaneous, musculoskeletal, and genital anomalies.

Cleft palate, with or without cleft lip, has been found to be the most frequent anomaly in PPS, being present in 91%-97% of cases. [1],[2] The severity can vary, ranging from bilateral cleft lip and palate to just a split uvula. Pits of the lower lip or the paramedian sinuses occur in 45.6% of cases. [3] Syngnathia (intraoral tissue bands) have been reported in 42.6% of cases; this condition can fatally affect mouth opening and needs to be corrected surgically in the first year of life, [3] or directly after birth if mouth opening is so poor that feeding problems occur. Another oral finding - ankyloblepharon filiforme adnatum - is reported in approximately 20% of cases. [3]

The popliteal pterygium is the most pertinent cutaneous anomaly and has been reported to occur in 89.7%-96% of cases, [2] while among familial cases [3] this is found in 56.8%. The popliteal pterygium contains a palpable cord of connective tissue and may contain the popliteal artery and the peroneal nerve. It may seriously limit extension, abduction, and rotation of the leg.

A distinctive nail anomaly comprising a pyramidal skin fold extending from the base to the top of the nails has been described in up to 33.3% of cases. [3] Syndactyly of the toes or fingers occurs in up to 50.8%, usually affecting the second and third toes but occasionally also toes 2 to 5. Talipes, spina bifida occulta, bifid ribs, and short sternum have also been reported. [3]

Genitourinary anomalies have been reported in both female and male patients. [3] In males these include uni- or bilateral cryptorchidism and bifid or absent scrotum, usually with a normal-size penis. In females the most frequent finding is hypoplastic labia majora. Besides this, hypoplastic vagina, hypoplastic uterus, and hypertrophy of the clitoris have also been reported in some cases.

This case report presents the orofacial and general findings in a patient diagnosed with PPS who was referred to our department because of complaints of pain in his mouth and poor oral health.


   Case Report Top


A 13-year-old boy, diagnosed with popliteal PPS, was referred to the Department of Pedodontic with Preventive Dentistry, Faculty of Dental Sciences, CSM Medical University, Lucknow, for treatment of carious teeth and evaluation of oral health. The reason for referral was that the patient complained of having pain in the lower right back region of the mouth since 15 days. On examination the patient had bilateral cleft lip and palate, with a large median pit on the lower lip. Detailed medical history revealed that the patient was normally delivered after an uneventful full-term pregnancy. The birth weight was 2.75 kg. He was born to normal parents and was the first and only child.

Physical examination of the patient revealed all the cardinal features of PPS [Figure 1]a-d. During the extraoral examination we observed that he displayed bilateral cleft lip and palate; a large median pit on the lower lip; syndactyly of the digits of both right and left feet, involving toes 2 and 3 on both sides bilateral popliteal pterygium; and failure of descent of testes (cryptorchidism) with complete absence of the scrotal sac but a normal penis. His past medical history revealed that he had undergone reconstructive surgery for the cleft lip and palate and for the popliteal pterygium.
Figure 1: (a) Surgically repaired bilateral cleft lip and palate. Paramedian sinuses and median lip pits. (b) Popliteal pterygium (surgically repaired on the left side). (c) Syndactyly of the second and third toes seen in both right and left foots. (d) Absence of normally descended testes (cryptorchidism), along with complete absence of scrotal sac but a normal penis

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Intraoral clinical examination [Figure 2] revealed the presence of a 'V' shaped maxillary arch, with scar of partially corrected cleft palate a small fistula on the right side of the anterior palate; severe crowding of both anterior and posterior teeth in the upper arch; grossly carious both upper lateral incisors and lower left first molar; caries of both upper first molars; and missing lower left second premolar. Examination of occlusion revealed class III molar relationship with anterior crossbite. Investigation by panoramic radiograph [Figure 3] revealed that all teeth were present except for the mandibular left second premolar and the maxillary left central incisor. The lateral cephalogram showed hypoplasia of the maxilla which gave the class III skeletal relationship.
Figure 2: Presence of 'V' shaped maxillary arch with scar of a partially corrected cleft palate, a small fistula on the right side of the anterior palate, and severe crowding of teeth

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Figure 3: Panoramic radiograph showing absence of mandibular left second premolar and maxillary left central incisor

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Treatment was carried out in the form of extraction of the most severely affected teeth and restoration of those teeth that could be preserved.


   Discussion Top


Gorlin et al. [1],[4] coined the term 'popliteal pterygium syndrome' on the basis of the most unusual anomaly seen in these patients - the popliteal web - though the condition was first described by Trelat [5] in 1869. The disorder is very rare and the incidence is difficult to calculate. Froster-Iskenius [2] calculated the incidence of this syndrome from various reported studies and was found it to be about 1 in 300000, which makes it an extremely rare condition. A thorough pedigree analysis has never been performed but, nevertheless, the mode of inheritance of the PPS is commonly as autosomal dominant [6],[4] though recessive inheritance [7] and even multifactorial inheritance have been suggested. [8] Recently, the interferon regulatory factor-6 gene (IRF6) on 1q32.2 was identified by Kondo et al. [9] as the first diseases gene responsible for Van der Woude syndrome (VWS) and PPS.

The differential diagnosis of PPS should include isolated occurrence of cleft lip and/or palate, VWS, and the multiple pterygium syndromes. In multiple pterygium syndrome, pterygium of the axilla, neck, elbows, and popliteal areas are present but lip pits are not seen. In VWS, pterygium, syngnathia, and ankyloblepharon are not seen. Correct diagnosis is important for proper genetic counseling. Prenatal detection of cleft lip and palate by ultrasound is possible. In severe cases, the popliteal pterygium can also be disclosed by ultrasound. However, in view of the good overall prognosis and the usually normal intelligence in these patients, there are ethical questions to be considered if termination of pregnancy is requested by the parents.

Although, the above-mentioned oral findings have been documented in earlier case reports also, hypodontia has not been reported previously in children with PPS. It was, however, a significant finding in the present case. Therefore, hypodontia can be assumed to be an important finding in PPS in addition to the other craniofacial anomalies, though support from further studies of this syndrome are necessary.

 
   References Top

1.Gorlin RJ, Sedano HO, Cervenka J. Polpliteal pterygium syndrome. Pediatrics 1968;41:503-9.  Back to cited text no. 1
[PUBMED]    
2.Hamamoto J, Matsumoto T. A case of facio-genito-popliteal syndrome. Ann Plast Surg 1984;13:224-9.  Back to cited text no. 2
[PUBMED]    
3.Froster-Iskenius UG. Polpliteal pterygium syndrome. J Med Genet 1990;27:320-6.  Back to cited text no. 3
[PUBMED]  [FULLTEXT]  
4.Gorlin RJ, Pindborg JJ, Cohen M. Syndromes of head and neck. 2 nd ed. New York: McGraw-Hill; 1976.  Back to cited text no. 4
    
5.Trelat U. Sur un vice conformation tres rare de la levre inferieure. J Med Chir Prat 1869:40:442-5.  Back to cited text no. 5
    
6.Hecht F, Jarvinen JM. Heritable dysmorphic syndrome with normal intelligence. J Pediatr 1967;70:927-37.  Back to cited text no. 6
[PUBMED]    
7.Bartsocas CS, Papas CV. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. J Med Genet 1972;9:222-6.  Back to cited text no. 7
[PUBMED]  [FULLTEXT]  
8.Kind HP. Poplitealis pterygium syndrome. Helv Paediatr Acta 1970;25:508-16.  Back to cited text no. 8
[PUBMED]    
9.Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in IRF6 gene cause Van der Woude and popliteal pterygium syndrome. Nat Genet 2002;32:285-9.  Back to cited text no. 9
[PUBMED]  [FULLTEXT]  


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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