|Year : 2013 | Volume
| Issue : 3 | Page : 184-187
Freeman-Sheldon syndrome: A dental perspective
Bijumon1, Dexton A Johns2
1 Department of Pedodontics, Government Dental College, Calicut, Kerala, India
2 Department of Endodontics, Government Dental College, Calicut, Kerala, India
|Date of Web Publication||11-Sep-2013|
Dexton A Johns
Department of Endodontics, Government Dental College, Calicut, Kerala
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes equinovarus. Presence of microstomia is always associated with practical difficulties of oral hygiene maintenance and increased susceptibility to caries. Patient as well as parental counseling is important in these cases. This case report presents a 7-year-old child with Freeman-Sheldon syndrome. Emphasis is given for the dental management of such children.
Keywords: Distal arthrogryposis, Freeman-Sheldon syndrome, whistling face syndrome
|How to cite this article:|
Bijumon, Johns DA. Freeman-Sheldon syndrome: A dental perspective. J Indian Soc Pedod Prev Dent 2013;31:184-7
| Introduction|| |
Congenital contractures in children can be divided into two categories: isolated congenital contractures (e.g. clubfoot) and multiple congenital contractures (MCCs). MCCs are frequently labeled with the diagnosis "arthrogryposis," defined as nonprogressive congenital contractures of greater than two different body areas. Distal arthrogryposis (DA) is the recent terminology used and includes a consistent pattern of distal joint (i.e. hands and feet) involvement, limited proximal joint involvement, autosomal dominant inheritance, reduced penetrance, and variable expressivity. DA syndromes were classified into 10 hierarchically related disorders (i.e. DA1-DA10). The prototypic DA is called DA type 1 (DA1). DA1 is characterized by contractures of the distal joints of the hands and feet, usually camptodactyly and clubfoot, respectively, without involvement of the facial muscles or other organ systems. Among the DAs, the phenotype of DA1 is most similar to a disorder called Freeman-Sheldon syndrome (FSS).  Hence, FSS was called DA2.
FSS, also termed DA type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), craniocarpotarsal syndrome, Windmill Vane Hand syndrome, or whistling face syndrome, was originally described by Freeman and Sheldon in 1938.  The FSS is characterized by three basic abnormalities: Microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes equinovarus. However, the expression of individual symptoms is rather variable. 
The syndrome occurs sporadically, but autosomal dominant and recessive inheritance patterns have been described. Males and females are affected in equal numbers. It is usually recognized at birth, but diagnosed prenatally by ultrasound.  The incidence of the disease is rare and less than 100 cases have been reported in literature. A "variant FSS" is now known as Sheldon-Hall syndrome (SHS) or DA2B.  In turn, individuals with characteristics typical of FSS are now labeled with the diagnosis "classical" FSS or DA2A. Despite the recognition of two distinct syndromes, DA2A (FSS) and DA2B (SHS), distinguishing between these two disorders is often challenging. SHS is caused by mutations in at least two genes, TNNI2 and TNNT3, which encode isoforms of troponin I and troponin T, respectively. No mutations in either gene have, to date, been reported in a patient with classical FSS. 
Here, we have given emphasis on the dental management of FSS. The presence of decreased mouth opening and crowding of dentition makes oral hygiene maintenance arduous and teeth vulnerable to decay. Dental treatment procedures in these patients are also a difficult task. The dentist should henceforth instruct preventive modalities for such patients.
| Case Report|| |
A 7-year-old male child reported to the Department of Pedodontics and Preventive Dentistry with a chief complaint of carious teeth and difficulty in mouth opening. Family history was noncontributory, with parents and younger brother being normal. The three basic abnormalities classically described for the FSS syndrome were evident, which include microstomia with pouting lips, camptodactyly with ulnar deviation of the hand, and talipes equinovarus. The disease-specific oral and dental findings include prominent supraorbital ridge, sunken eyes, telecanthus, short nose, colobomata of the nostrils, long philtrum [Figure 1]a, b, high narrow palate [Figure 2], and marked microsomia and microglossia [Figure 3]. The combination of small tongue and the limited movement of the soft palate had caused a nasal speech. There was an H-shaped dimpling of the skin over the chin. His face was notably expressionless and his mouth puckered as if whistling. Neck movement was limited in flexion and extension.
|Figure 1: (a and b) Microstomia with pouting lips, prominent supraorbital ridge, sunken eyes, telecanthus, short nose, and colobomata of the nostrils, long philtrum|
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Intraoral examination revealed enamel caries of 52, 53, and 62 and dentinal caries of 74, 75, 84, and 85 [Figure 4]a, b. Intraoral periapical radiograph was not feasible for this patient, and hence, a panoramic view was taken [Figure 5]. A thorough oral prophylaxis was performed and rehabilitation of all carious lesions was done. Antimicrobial therapy and topical fluoride varnish was applied. Diet modifications and instructions were given to improve dental health. Emphasis was given for a recall visit of 3 months.
|Figure 4: (a) Dentinal caries of 74, 75, 84, and 85, (b) Enamel caries of 52, 53, and 62|
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The hand deformities included ulnar deviation of the fingers, campylodactyly, first web space contracture, and hypoplasia of the thumb [Figure 6]a, b. The patient had scoliosis and walking difficulties due to club foot [Figure 7]a, b. The skin over his wrists was smooth and no veins were visible. His wrists, elbows, and ankles were stiff. However, the patient was free of any mental abnormalities. The patient was referred to a pediatrician for thorough medical examination to rule out any evidence of systemic involvement. On the basis of clinical and radiographic findings, a clinical diagnosis of FSS was made.
|Figure 6: (a) Clinical picture of hand deformities including ulnar deviation of the fi ngers, campylodactyly, first web space contracture, and hypoplasia of the thumb, (b) Radiograph of hand|
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|Figure 7: (a) Clinical picture of club foot, (b) Radiograph of club foot|
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| Discussion|| |
The presentation of medically compromised and syndromic children in the dental office is a great challenge to the pediatric dentist. Various syndromes are identified early in children and require special attention from birth. Ultrasonographic evaluation can help the prenatal diagnosis of FSS as it was reported for a 20-week fetus with a positive family history. There is no standard protocol in the treatment of FSS because of the clinical variability and rarity. The foot and hand deformities require extensive orthopedic and plastic reconstruction. General anesthesia is often difficult due to the structural anomalies of the oropharynx and upper airway. The spine should be evaluated before performing epidural anesthesia. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. There is also an increased risk of malignant hyperthermia and postoperative pulmonary complication.  In this case, we had used local anesthesia as the patient was cooperative and due to the known complications of general anesthesia. Patients and their parents must receive psychotherapy, which should include marriage counseling. Mitigation of lasting psychological problems, including depression secondary to facial deformities, chronic illness, and posttraumatic stress disorder (PTSD), must be successfully addressed.
Microstomia and contractures hindered feeding in infants to the extent that supplemental feeding techniques were required. Supplemental feedings are typically provided with a modified nipple with a widened opening. Surgical widening of the oral commissure was, however, not uniformly necessary or always successful (i.e. it did not improve oral function). Dental crowding was a universal finding in FSS patients. Several individuals required extraction of multiple teeth because of crowding and/or treatment for malocclusion. The presence of microstomia further exacerbated dental care, because access to the oral cavity for routine hygiene and treatment procedures was more difficult. The musculoskeletal defects observed in individuals with FSS include delayed gross motor development and variably compromised normal function of the hands and feet. The combination of limited dexterity and small oral openings necessitates the use of powered tooth brushes. The patient and the patient's parents should be made aware of the importance of home-based preventive measures such as diet control, oral hygiene maintenance, fluoride mouth rinse, and fluoride dentifrices. Professional care such as pit and fissure sealants, oral prophylaxis, and topical fluoride application must be provided. Limited accessibility may encourage the use of chemo-mechanical caries removal, rather than use of rotary techniques of caries removal, especially in posterior tooth. Current methods of caries prevention such as use of carbon dioxide lasers, genetically modified food and organisms, polymeric coatings over tooth, and caries vaccine are the areas which the dentist can venture into. Use of an intraoral camera will aid in the oral examination in FSS patients as the cheeks cannot be retracted properly using a mouth mirror and also helps in the detection of caries and calculus.
Comprehensive treatment, ranging from initial preventive measures to more definitive treatment of restorations and extractions, along with complete guidance and motivation of parents to maintain oral hygiene and visit dental surgeon for regular and timely dental checkup is required. Speech therapy may be started at 6 months of age and, if needed, may be continued till adulthood.
There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal.
| Conclusion|| |
FSS is a rare progressive myopathic disorder affecting the face, chest, and limbs. Management varies according to the clinical variability of FSS. The case of FSS is usually undertaken by a multidisciplinary team consisting of pediatrician, plastic surgeon, pedodontist, speech pathologist, audiologist, otolaryngologist, and psychologist. Parent education, counseling, and cooperation play a pivotal role in the management of such children.
| References|| |
|1.||Freeman EA, Sheldon JH. Cranio-carpo-tarsal dystrophy: Undescribed congenital malformation. Arch Dis Child 1938;13:277-83. |
|2.||Wettstein A, Buchinger G, Braun A, Bazan UB. A family with whistling-face syndrome. Hum Genet 1980;55:177-89. |
|3.||Robbins-Furman P, Hecht JT, Rocklin M, Maklad N, Greenhaw G, Wilkins I. Prenatal diagnosis of Freeman Sheldon syndrome. Prenat Diagn 1995;15:179-82. |
|4.||Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003;72:681-90. |
|5.||Jones R, Dolcourt JL. Muscle rigidity following halothane anaesthesia in two patients with Freeman Sheldon syndrome. Anesthesiology 1992;77:599-600. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]