Home | About Us | Editorial Board | Current Issue | Archives | Search | Instructions | Subscription | Feedback | e-Alerts | Login 
Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
 Users Online: 1895  
 
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size


 
  Table of Contents    
CASE REPORT
Year : 2014  |  Volume : 32  |  Issue : 2  |  Page : 152-155
 

Oro-facial-digital syndrome Type 1: A case report


1 Department of Pedodontics and Preventive Dentistry, Kalinga Institute of Dental Sciences, KIIT University, India
2 Department of Pedodontics and Preventive Dentistry, Institute of Dental Sciences, Bhubaneswar, Orissa, India
3 Department of Pediatrics, Institute of Medical Sciences, SOA University, Bhubaneswar, Orissa, India
4 Department of Pediatric Nephrology, Children's Hospital Of Michigan, Detroit, MI, USA
5 Department of Oral Pathology, Institute of Dental Sciences, Bhubaneswar, Orissa, India

Date of Web Publication17-Apr-2014

Correspondence Address:
Kanika Singh Dhull
Department of Pedodontics & Preventive Dentistry, Institution: Kalinga Institute of Dental Sciences, KIIT University, Bhubaneswar, Orissa, India

Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.130980

Rights and Permissions

 

   Abstract 

Oro-Facial Digital Syndrome (OFDS) is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I) which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.


Keywords: Oral-facial-digital syndrome, OFD type1, Papillon - leage and Psaume syndrome, syndrome


How to cite this article:
Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome Type 1: A case report. J Indian Soc Pedod Prev Dent 2014;32:152-5

How to cite this URL:
Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome Type 1: A case report. J Indian Soc Pedod Prev Dent [serial online] 2014 [cited 2019 Dec 15];32:152-5. Available from: http://www.jisppd.com/text.asp?2014/32/2/152/130980



   Introduction Top


Oro-Facial Digital Syndrome (OFDS) is a general term for group of apparently distinctive genetic diseases that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). [1] One of these is OFDS type one (OFDS-I) which was described by two French dentists Papillon-Lιage E and Psaume Jean in 1954 after a study of 22 cases and hence, the syndrome was also named Papillon - Leage and Psaume Syndrome. [2],[3]

Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms.

Ankyloglossia, multi-lobulated nodular tongue, clefts of the alveolar ridge, cleft lip-palate, multiple hypertrophied frenula are the most commonly encountered intraoral symptoms of OFDS-I. The facial abnormalities includes ocular hypertelorism, aplasia of the alar cartilage, alopecia and strabismus. [1],[3]

Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. [4] OFDS type I is an x-linked dominant trait, which occurs mostly in females and is lethal to males whereas the other types of OFDS show autosomal recessive (AR) inheritance. [5] It occurs in approximately 1.5/1000 patients with cleft lip, cleft palate, or both. [6] The gene responsible for this syndrome is found on the short arm of X-chromosome (Xp22.2-Xp22.3). [7] The mutation analysis has identified the gene as CXORF5, which was later named as OFD1 gene.


   Case Report Top


A 13 year old female child visited to the Department of Pedodontics and Preventive Dentistry with the complaint of discolored upper front teeth [Figure 1]. The child was born at term out of non consanguineous marriage and seemed healthy otherwise. Further enquiry from parents revealed that the child was a late learner and had difficulty in memorizing her lessons. On clinical examination the child's height and weight were normal for her age group. She presented with typical features of OFD1 which included thin wiry hairs, frontal bossing, depressed nasal bridge and alar hypolplasia [Figure 1]. Thin wiry hairs were also seen in the present case. Examination of digits showed brachydactyly of both hands and feet [Figure 2] and [Figure 3] and clinodactyly of fourth fingers of both the hands [Figure 2] which were further confirmed with the hand-wrist radiograph. Intra-oral examination revealed hypoplastic teeth, retained deciduous canines in mandible(73,83), supernumerary canines on both sides in maxilla as well as congenitally missing 32, multiple thick buccal frenal attachments [Figure 4], multilobulated and bifid tongue with nodules present over the dorsal surface [Figure 5], partial ankyloglossia [Figure 6], high arched palate [Figure 7]. Alveolar cleft was presented distal to the lower left lateral incisor [Figure 6]. She also exhibited crowding in the maxillary anterior region. Dental panoramic tomogram confirmed the presence of supernumerary teeth and retained deciduous teeth [Figure 8]. Dental caries was seen with 11,21, 12, 22, 16, 26,36 and 46. The CT scan of brain showed partial agenesis of corpus callosum and a midline cystic lesion [Figure 9]. The complete family history, medical history, clinical and radiological examination confirmed the presence of OFDS type I in the above mentioned child. The child was the sent to pediatrician who also confirmed the child to be syndromic. Pediatrician also gave the history of miscarriages of male fetuses prior to the delivery of this female child which is also a feature in oro-facial-digital syndrome type I.
Figure 1: Frontal view showing thin wiry hairs, frontal bossing, depressed nasal bridge and alar hypolplasia

Click here to view
Figure 2: Digits showing brachydactyly in both hands and clinodactyly of fourth fi ngers of both the hands

Click here to view
Figure 3: Digits showing brachydactyly in both feet

Click here to view
Figure 4: Inta-oral view showing discolored upper anterior teeth and multiple thick buccal frenal attachments

Click here to view
Figure 5: Multilobulated and bifi d tongue with nodules present over the dorsal surface

Click here to view
Figure 6: Intra-oral view showing partial ankyloglossia and alveolar cleft present distal to the lower left lateral incisor

Click here to view
Figure 7: Intra-oral view showing high arched palate

Click here to view
Figure 8: Dental panoramic tomogram depicting the presence of supernumerary teeth and retained deciduous teeth

Click here to view
Figure 9: Computed Tomograph Scan of the brain

Click here to view



   Discussion Top


Oral-facial-digital syndrome (OFDS) consists of a group of heterogeneous genetic disorders with different patterns of inheritance representing a spectrum of anomalies of the cranium, face, hands and feet. The case reported here showed many typical features of the syndrome. The facial abnormalities frequently observed in OFDS-I are nasal alar cartilage hypoplasia, frontal bossing, hypertelorism or dystopia canthorum with broad nasal bridge, and micrognathia with hypoplasia of the mandible ramus. [8],[9],[10] Facial features such as flat nasal bridge, alar hypoplasia and prominent frontal bones were observed in the present case .However, there are cases reported with normal alar development. [11]

Common inta-oral findings include lobulated tongue, cleft lip and palate, numerous hyperplastic frenulas (lingual, buccal, labial), lobulated tongue with hamartomatous growths, narrow upper lip, and dental anomalies. Orofaciodigial syndrome is one of the classic syndromes involving supernumerary teeth [12] and demonstrating both hyperdontia mand hypodontia.

The oral manifestations present in the case were hypoplastic teeth, multiple retained deciduous teeth, supernumerary teeth, multiple, multilobulated tongue, partial ankyloglossia, high arched palate. The case also presented hyper plastic multiple buccal frenae attached to the buccal aspects of the alveolar ridges in the maxillary and mandibular arches as reported by Lipp and Lubit [11] King and Sanares [13] and Tuli et al.[14]

OFDS type 1 presents with variety of malformations of the digits of the hands and feet. However, the common manifestations of the syndrome comprises of the presence of some form of digital malformation, such as clinodactyly, brachydactyly or syndactyly of the hands and polydactyly of the feet, in combination with the facial and oral abnormalities. [15] The present case showed brachydactyly of both hands and feet and clinodactyly of fourth fingers of both hands. The malformations of arms and legs were reported by Shaw et al. where the case presented with disproportionately short lower legs and forearms. [4] King et al. presented a case which also exhibited deformity of the left leg, which was 2.5 cm shorter than the right leg apart from brachydactyly of the left thumb and the presence of an extra digit on the left foot. [13]

Cutaneous abnormalities include numerous milia, especially over the face and pinna, a patterned type of alopecia, and sparse, fine or coarse, dry lusterless hair. [16] These lesions tend to be present in large numbers and generally have a prolonged persistence. They are very important because of their usefulness in making an early diagnosis, allowing adequate genetic counseling. [6],[13] Patchy alopecia has been reported in 65% of cases. The present case exhibited thin wiry hairs.

Other conditions commonly associated with OFDS type I are polycystic kidney disease, variable central nervous system abnormalities, and increased skull base angle. However, in the present case no abnormality was seen in the ultrasonography of the abdomen, but there are chances of development of polycystic kidney later in the life.

Central nervous disease occurs in 40% of OFD1 individuals with mental retardation, [17] seizures, hydrocephalus, cerebellar anomalies, porencephaly, and agenesis of corpus callosum. [18] The CT scan of brain in the present case exhibited partial agenesis of corpus callosum and a midline cystic lesion.

The sex ratio (F:M) in affected siblings probably differs significantly from 1:1 to 2:1.

Furthermore, an excessive number of abortions in affected siblings are thought to occur.

It may be associated with a number of other syndromes, such as Eliis-van Creveld syndrome. [12]

Dental caries is commonly seen in these patients because of the presence of crowding caused by the eruption of supplemental teeth and a constricted dental arch can result in areas where plaque can easily accumulate, and tooth brushing is likely to be further compromised by the multiple and hyper plastic frena. [19] Pediatric dentist should formulate a preventive program consisting of oral hygiene instructions, dietary advice, regular fluoride mouth rinsing and the regular application of topical fluoride agents for these children.


   Conclusion Top


Oral-facial-digital syndrome type 1 is a syndrome affecting face, extremities and the oral cavity. It has X linked dominant (XLD) inheritance with prenatal mortality in homozygous males whereas the other types of OFDS show autosomal recessive (AR) inheritance.OFD type 1 warrants attention of Pediatric dentist as early diagnosis from odontogenic point of view will minimize the sequelae of developing physical and dental abnormalities.

 
   References Top

1.Papillon-Leage (Mme), Psaume J. Une malformation hereditaire de muqueuse buccale: Brides et freinsanormaux. Rev Stomatol 1954;55:209-27.  Back to cited text no. 1
    
2.Gorlin RJ, Psaume J. Orodigitofacial dysostosis - a new syndrome. J Pediatr 1962;61:520- 30.  Back to cited text no. 2
    
3.Gorlin RJ, Levin LS. Oro-facial digital syndrome. In: Gorlin RJ, Cohen MM, Levin LS, editors. Syndromes of the head and neck. 3/e. New York: Oxford University Press; 1990. p. 676-86.  Back to cited text no. 3
    
4.Shaw M, Gilkes JJ, Nally FF. Oral facial digital syndrome - Case report and review of literature. Br J Oral Surg 1981;19: 142-7.  Back to cited text no. 4
    
5.Kennedy SM, Hashida Y, Malatak JJ. Polycystic kidneys, pancreatic cysts and cystadenomatous bile ducts in the oral-facial-digital syndrome type 1. Arch Pathol Lab 1991;115: 519-23.  Back to cited text no. 5
    
6.Solomon LM, Fretzin D, Pruzansky S. Pilosebaceous dysplasia in the oral-facial-digital syndrome. Arch Dermatol 1970;102:598-602.  Back to cited text no. 6
    
7.Feather SA, Woolf AS, Donnai D, Malcom S, Winter RM. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet 1997;6:1163-7.  Back to cited text no. 7
    
8.Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oral-facial-digital syndrome. J Pediatr 1967;71:94-102.  Back to cited text no. 8
    
9.Baraitser M. The oral-facial-digital syndromes. J Med Genet 1986;23:116-9.  Back to cited text no. 9
    
10.Whelan DT, Feldman W, Dost I. The oral-facial-digital syndrome. Clin Genet 1975;8:205-12.  Back to cited text no. 10
    
11.Lipp MJ, Lubit EC. The oral-facial-digital syndrome: Case report of a mother and daughter. Cleft Palate J 1990;27:311-6.  Back to cited text no. 11
    
12.Dumett CO. Anomalies of the Developing Dentition. In: Pinkham, Casamassimo, Fields, Mctigue, Nowak, editors. Pediatric dentistry: Infancy through adolescence. 4/e. Philadelphia: W.B Saunders Company; 2005. 62t.  Back to cited text no. 12
    
13.King NM, Sanares AM. Oral-facial-digital syndrome, Type I: A case report. J Clin Pediatr Dent 2002;26:211-5.  Back to cited text no. 13
    
14.Tuli A, Sachdev V, Singh A, Kumar A. Physical and dental manifestations of oral-facial-digital syndrome type I. J Indian Soc Pedod Prev Dent 2011;29:83-6.  Back to cited text no. 14
[PUBMED]  Medknow Journal  
15.Jones KL. Smith's recognizable patterns of human malformation. 5 th ed. Philadelphia: WB Saunders Company; 1997. p. 362-5.  Back to cited text no. 15
    
16.Habib K, Fraitag S, Couly G, De Prost Y. Lesions cutanees du syndrome oro-digito-facial. Ann Pediatr 1992;39:449-52.  Back to cited text no. 16
    
17.Melnick M, Shields ED. Orofaciodigital syndrome, type I: A phenotypic genetic analysis. Oral Surg 1975;40:599-610.  Back to cited text no. 17
    
18.Termote B, Verswijvel G, Palmers Y. Oro-facio-digital syndrome type 1: Imaging findings in an 11-year-old girl. JBR-BTR 2007;90:47-50.  Back to cited text no. 18
    
19.Zero DT. Dental caries process. Dent Clin N Am 1998;43: 635-64.  Back to cited text no. 19
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

Top
Print this article  Email this article
 

    

 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (2,303 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed3764    
    Printed69    
    Emailed0    
    PDF Downloaded192    
    Comments [Add]    

Recommend this journal


Contact us | Sitemap | Advertise | What's New | Copyright and Disclaimer 
  2005 - Journal of Indian Society of Pedodontics and Preventive Dentistry | Published by Wolters Kluwer - Medknow 
Online since 1st May '05