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CASE REPORT
Year : 2007  |  Volume : 25  |  Issue : 3  |  Page : 144-147
 

Noonan syndrome: A case report


Dept. of Pediatric Dentistry, Meenakshi Ammal Dental College, Chennai, Tamil Nadu, India

Correspondence Address:
S Asokan
Dept of Pediatric Dentistry, Meenakshi Ammal Dental College, Alapakkam Main Road, Chennai – 600 095, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.36567

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   Abstract 

Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.


Keywords: Noonan syndrome, oral rehabilitation, orofacial defects


How to cite this article:
Asokan S, Muthu M S, Rathna Prabhu V. Noonan syndrome: A case report. J Indian Soc Pedod Prev Dent 2007;25:144-7

How to cite this URL:
Asokan S, Muthu M S, Rathna Prabhu V. Noonan syndrome: A case report. J Indian Soc Pedod Prev Dent [serial online] 2007 [cited 2018 Sep 25];25:144-7. Available from: http://www.jisppd.com/text.asp?2007/25/3/144/36567



   Introduction Top


Ullrich (1930) and Turner (1938) described females with a syndrome of short stature, sexual infantilism and a pattern of characteristic minor anomalies like pterygium colli. This syndrome originally named as  Ullrich-Turner syndrome More Details was later called as Noonan syndrome. It was first reported by Kobylinski (1883), but it was first recognized as a unique entity in 1963 when Pediatrician and Heart specialist Jacqueline Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart defects. The characteristic abnormalities resemble those in Turner syndrome, which only affects females and so Noonan syndrome was used to be called as " Male Turner syndrome More Details". This term is no longer used because Noonan syndrome can affect females also. Noonan syndrome is also called as Webbed neck syndrome, Pseudo-Ullrich Turner syndrome, Female Pseudo-Turner syndrome or  Turner-like syndrome More Details. [1],[2],[3],[4] These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares a number of clinical features. The observation that patients with Noonan syndrome have normal karyotypes (46XY) was important in allowing the distinction to be made between the Turner and Noonan syndromes.

Noonan syndrome can be inherited as an autosomal dominant trait. It affects 1 in 1000 to 2500 children. [5] The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, the presumed occurrence of a new mutation. In 2001, the gene mutation responsible for Noonan syndrome, PTPN11 was identified on chromosome number 12. Now there is evidence of autosomal recessive forms of Noonan syndrome also. Offspring of an affected individual have a 50% chance of developing Noonan syndrome.


   Major Features of Noonan Syndrome Top
[6],[7][Table - 1]

Nirmal et al reported a case of a 4-year-old male child with Noonan syndrome. [8] A case of multiple giant cell lesions of the mandible that occurred in a nine year old female child with phenotypic features of Noonan syndrome [9] was reported by Lee and Cooper (2005).


   Case Report Top


A 13-year-old girl reported with her mother, referred by a general dental practitioner. The child had pain in her right lower back tooth region (85) since 10 days. History revealed that the child had delayed milestones and had undergone cardiac surgery and a surgery in her anal region three years back. General examination revealed that the child had a short stature, facial asymmetry, hypertelorism, down slanting palpebral fissures, depressed nasal bridge, low set ears with auricular tags, broad philtrum, short neck and clubbed fingers [Figure - 1],[Figure - 2]. Oral manifestations included incompetent lips, high arch palate, anterior openbite [Figure - 3], hypoplastic jaws (left), retrognathic maxilla and prognathic mandible. Intraoral examination revealed dental caries in the retained primary teeth (55, 65, 75, 85) and 16,26,36,47. Pain on percussion was elicited in relation to 85. OPG showed complete resorption of the distal roots and partial resorption of the mesial roots in the over retained primary teeth. Extraction of all over retained teeth was planned after consent from the general physician and the mother was asked to bring the reports of the child's medical history at the next visit. The child's medical reports indicated that the child had Noonan syndrome with severe pulmonary stenosis, moderate right ventricular hypertrophy and large ostium secundum atrial septal defect (ASD). Summary of a pericardial patch closure of ASD and pulmonary valvotomy was documented in the reports. The child was also operated for an anovestibular fistula. Oral prophylaxis, extraction of all four retained primary teeth and restoration of decayed permanent teeth were done. The child was then referred to Meenakshi Ammal Dental College and Hospital, Chennai, India. The child reported to the Department of Pediatric Dentistry after one month, intra oral examination showed erupting second premolars. OPG and lateral cephalometric radiographs were taken. Opinion was obtained from the department of orthodontics and oral and maxillofacial surgery. Orthodontic treatment with chin cap and headgear, to prevent further mandibular advancement was started [Figure - 4]. Follow up was done on monthly basis. After 6 months, a considerable change in her profile and a reduction in the anterior openbite with competent lips were seen [Figure - 5],[Figure - 6]. The mother was satisfied with the treatment provided and the results obtained. Transposition of left upper permanent canine was seen [Figure - 5] and orthodontic alignment of teeth would be done in association with the Department of Orthodontics. Surgical intervention with maxillary advancement was the treatment option for the hypoplastic jaws. But orthognathic surgery has been deferred for 2-3 years considering the child's age and nutritional (health) status.


   Discussion Top


Noonan syndrome is a developmental disorder characterised by facial dysmorphia, short stature, cardiac defects and skeletal malformations. Recently, PTPN11 which encodes the non-receptor protein tyrosine phosphatase SHP-2 (src homology region 2-domain phosphatase-2) was identified as the defective gene. The locus was mapped on chromosome 12 (12g 24.1). SHP-2 is a member of a small family of cytosolic protein tyrophosphatases (PTP). These proteins exhibit high degree of homology in amino acid sequence and are essential during development. SHP-2 is the key molecule in the cellular response to growth factors, hormones, cytokines and cell adhesion molecules. It is required for activation of the mitogen activated protein (MAP) kinase cascade induced by epidermal, fibroblast and hepatocyte growth factors. It is involved in mesodermal patterning, limb development, hematopoetic cell differentiation and semilunar valvulogenesis. Missense mutations in PTPN11 accounted for more than 50% of cases of Noonan syndrome. [10] The failure to identify a PTPN11 mutation does not rule out Noonan syndrome.

As the syndrome has a wide spectrum of disorders, patients with Noonan syndrome have to undergo the following lab studies and investigations:

  • Hematological investigations (Total blood count, coagulation profile and measurement of factor XI level at the minimum)
  • Karyotyping and mutation analysis
  • Cardiac investigations (ECG, echocardiogram and consultation with a pediatric cardiologist)
  • Assessment of development (IQ, Identify any delays, mental retardation)
  • Audiologic evaluation


Treatment focuses on the problems that occur and is usually multidisciplinary as in most other syndromes. The expected outcome depends on the extent and severity of symptoms that are present. Activities of the child may be limited depending on cardiac status and the presence of hematologic abnormalities. Certain types of congenital heart lesions are amenable to surgical correction. No specific pharmacologic therapy or special dietary restrictions is necessary. Patients with bleeding disorders must be advised against the use of aspirin and aspirin containing products or other medications that may interfere with coagulation or platelet function. Growth hormone has been used to accelerate growth in some patients with this syndrome. All patients require continuous developmental, audiologic and ophthalmologic follow-up.

In the present case, the child's biochemical and hematological investigations showed no abnormalities. The child had a normal karyotype (46XY). Cardiac investigations showed S1 S2 wide, fixed, split; ejection systolic murmur; severe stenotic pulmonary valve 14 mm at annulus with moderate right ventricular hypertrophy and large ostium secundum ASD with bi-directional shunt. The child was below average in school and had a hearing difficulty, which increased over the months. The cardiac and anal defects were surgically corrected. Extraction of over retained primary teeth and restoration of decayed permanent teeth was done. Orthodontic treatment with chin cap and headgear considerably reduced the anterior openbite. Orthognathic surgery has been planned to correct the orofacial and occlusal defects. The child has now been referred to an Ear Nose Throat surgeon for the management of hearing impairment.

The children with Noonan syndrome usually have a wide array of health problems, making it important for all practitioners to be aware of the child's special care needs. Multidisciplinary treatment is the key to success in managing children with syndromes. The pediatric dentist can be the first health personnel to identify such a child and may lead the multidisciplinary health team in treating their problems.


   Acknowledgements Top


The authors would like to thank the parents of the child for their kind permission in allowing us to present a case report of their child with her photographs. Thanks to Dr. Nandakumar and Dr. Manikandan, Professors from the Department of Orthodontics and Oral and Maxillofacial Surgery for their valuable opinions and help. Thanks to Mr. Sam for helping us with the photographs. Special thanks to our institution Meenakshi Ammal Dental College and Hospital, Chennai for making all the charges free for the child's investigations and treatment.

 
   References Top

1.Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13  Back to cited text no. 1    
2.Gorlin RG, Cohen MM Jr, Hennekam RC. Syndromes of the head and neck. 2 nd ed. Oxford University Press: New York; 2001. p. 469  Back to cited text no. 2    
3.Cohen MM Jr, Gorlin RJ. Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 1991;40:159-66  Back to cited text no. 3    
4.Yazdizadeh M, Tapia JL, Baharvand M, Radfar L. A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004;98:316-20  Back to cited text no. 4    
5.Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974;127:48-55  Back to cited text no. 5    
6.Noonan JA. Noonan syndrome: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1994;33:548-55  Back to cited text no. 6    
7.Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, et al. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. J Postgrad Med 2000;46:98-100  Back to cited text no. 7    
8.Nirmal T, Muthu MS, Arranganal P. Noonan syndrome: A case report. J Indian Soc Pedodont Prevent Dentist 2001;19:77-9  Back to cited text no. 8    
9.Lee SM, Cooper JC. Noonan syndrome with giant cell lesions. Int J Pediatr Dentist 2005;15:140-5  Back to cited text no. 9    
10.Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-63  Back to cited text no. 10    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]
 
 
    Tables

  [Table - 1]


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    Abstract
    Introduction
    Case Report
    Discussion
    Acknowledgements
    Major Features o...
    References
    Article Figures
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