Indian Journal of Dental Research

SHORT COMMUNICATION
Year
: 2013  |  Volume : 24  |  Issue : 1  |  Page : 132--135

Orofacial digital syndrome


Kajal V Dave, Shilpa C Patel, Bhavin B Dudhia, Pritam Panja 
 Department of Oral Pathology and Microbiology, Ahmedabad Dental College and Hospital, Ahmedabad, Gujrat, India

Correspondence Address:
Kajal V Dave
Department of Oral Pathology and Microbiology, Ahmedabad Dental College and Hospital, Ahmedabad, Gujrat
India

Abstract

A case of a 10-year-old boy reported to us for delayed eruption of permanent teeth with classical features of orofacial digital syndrome (OFDS). The case of OFDS is being reported and the various clinico-radiological features of both type I and type II are compared. Chromosomal karyotyping of the case has also been performed.



How to cite this article:
Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome.Indian J Dent Res 2013;24:132-135


How to cite this URL:
Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res [serial online] 2013 [cited 2019 Sep 16 ];24:132-135
Available from: http://www.ijdr.in/text.asp?2013/24/1/132/114920


Full Text

The orofacial digital syndrome (OFDS) is a genetic anomaly presenting characteristic disorders of formation in the face, oral cavity, and digits. [1] In 1954, Papillon-Leage and Psaume described a new syndrome involving malformation of face, oral cavity, and digits and subsequently, this syndrome became to be known as orofacial digital syndrome I (OFDS 1). They described it under the heading of orofacial dysostosis, but as there was involvement of tissues other than the bone, the term OFD came to be preferred. [2]

There are at least nine different types of this condition. It is transmitted as an X-linked dominant condition with lethal effects in males. [3],[4] Chromosomal aberrations have been demonstrated in only minority of the patients. The abnormality consisting of an insertion in one of no.1 (group A) chromosomes. Russ et al. suggested that syndrome is generally caused by partial trisomy. [5]

The characteristic features are multiple hyperplastic lingual and labial frenula, lobulated tongue, median cleft of upper lip and palate, and tooth anomalies. Mental retardation is seen in 30-50% of cases. There are variable digital malformations, including syndactyly and brachydactyly (being more common) and less commonly polydactyly. [6]

In addition, polycystic kidney diseases have been found in patients with OFD I. [7] Facial features include frontal bossing, facial asymmetry, hypertelorism, and a broadened nasal bridge. In 1941, Mohr described a condition, which came to be known as Mohr syndrome or OFD II, which includes similar malformations as in OFD I, but there are distinct differences. OFD II is transmitted as an autosomal recessive condition. The bifid hallux being one of the features that distinguish OFD II from OFD I. Here, we present a case of an 11-year-old male child with combination of malformations which are not entirely compatible with either OFD I or II. Chromosomal karyotype of the patient is normal.

 Case Report



An 11-year-old boy reported to the Out Patient Department of Ahmedabad Dental College and Hospital with complaint of delayed eruption of permanent teeth. On further questioning, it was revealed that marriage between the parents was non-consanguineous. The father was aged 28 and the mother 23 at the time of patient's birth. Patient was the second offspring of parents with other two siblings being normal. The patient was born at full-term, uneventful pregnancy without any pre-natal and perinatal complications.

On clinical examination, patient was found to have mild mental retardation with intraoral abnormalities including lobulated tongue, multiple labial frenulae, and nodule on lateral border of tongue [Figure 1] and [Figure 2]. Ankyloglossia and high-arched palate were also seen. Facial features included pseudocleft of the upper lip, [Figure 3], mild ocular hypertelorism, and broad nasal root were present [Figure 4].{Figure 1}{Figure 2}{Figure 3}{Figure 4}

Digital features included polydactyly of both hands and left foot [Figure 5] and [Figure 6]. Further clinico-radiological examination revealed absence of permanent mandibular central incisors (31, 41) and left lateral incisor (32) [Figure 7]. Radiograph of foot shows presence of extra phalanges on both feet [Figure 8]. Extra digit was not visible clinically on left foot and could be seen only radiographically. Examination of kidney was normal without any evidence of polycystic kidneys. Otological examination revealed conductive hearing loss. Chromosomal karyotype of the patient was normal with no abnormality in group A chromosome or in pair of sex chromosomes.{Figure 5}{Figure 6}{Figure 7}{Figure 8}

 Discussion



OFD is an umbrella term for nine different types of this condition. According to Gorlin and Psaume (1962), the first observation about this syndrome dated back to 1883. Morton and Jordan (1935), Mohr in 1941, also reported the cases of children with similar malformation of face, oral cavity, and digits. [1] Gorlin et al. in 1961 suggested the name orofacial digital dysostosis. [8]

The prevalence of this syndrome has been estimated to be 1/100 among cases with cleft palate. The overall clinical appearance of this male patient was consistent with the findings described for both OFD I and OFD II.

The presentation of signs and symptoms is extremely varied, making diagnosis difficult. OFD I is commonest among all types. The other types are extremely rare. [4]

The patient with OFD syndrome has consistently manifested oral and tongue anomalies associated with variety of other findings which are compared in [Table 1].{Table 1}

Present case had multiple clinical manifestations with more pronounced oral features with digital and few facial features. Some of these facial features may not be present or may be of different intensities. Chromosomal analysis of present case showed 46/XY constitution with no morphological abnormality of chromosomes. Russ et al. suggested that syndrome is generally caused by partial trisomy.

The present case is compared with common features of OFD I and OFD II in [Table 1]. [4] Managing a patient with OFD is quite challenging. Pre-natal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. Pre-natal ultrasound examination may detect structural brain malformations and/or duplication of the hallux. Cosmetic or reconstructive surgery for clefts of the lip and/or palate, tongue nodules, and accessory frenulae; treatment as for isolated cleft palate, including speech therapy and assessment for and aggressive treatment of otitis media; orthodontic treatment for malocclusion; surgery to repair syndactyly, if present may be needed. Renal disease may require hemodialysis or peritoneal dialysis and renal transplantation.

Surveillance may involve regular follow-up for assessment of speech and ear infections/hearing loss if cleft lip is present; annual determination of blood pressure and serum creatinine concentration to monitor renal function and follow-up by renal ultrasound evaluation to assess cyst development.

 Conclusion



It can be seen from the above discussion that the presented case is typical of neither of OFD I nor OFD II, but the features are most compatible with OFD II.

 Summary



OFD is very rare, with incidence being about 1 in every 250,000 live births. The case being presented here has overlapping features of both OFD I and II, making the diagnosis difficult. The parents and siblings were normal, raising the possibility of mutant gene causing the defect. The patient had conductive hearing loss and mild mental retardation, although kidneys were normal. Chromosomal karyotype was also normal. These features, along with the fact that OFD I is an X-linked dominant condition with lethal effects in males, point more toward this case being OFD II. But, it must be emphasized that the diagnosis is not clear cut, as overlapping features of OFD I are also present.

References

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