|Year : 2019 | Volume
| Issue : 6 | Page : 872-876
Papillon-Léage and psaume syndrome patient with multiple dental and orofacial anomalies
DD Kilinc, E Ozsarp
Department of Orthodontics, Faculty of Dentistry, Istanbul Medipol University, Istanbul, Turkey
|Date of Acceptance||28-Dec-2018|
|Date of Web Publication||12-Jun-2019|
Dr. E Ozsarp
Department of Orthodontics, Faculty of Dentistry, Istanbul Medipol University, Istanbul
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Papillon-Léage-Psaume Syndrome, also known as oral-facial-digital syndrome (OFDS) type I, describes a group of neurodevelopmental disorders that are characterized by anomalies of the oral cavity, facial features, and the digits. Central nervous system (CNS) anomalies and visceral organ abnormalities such as kidney, pancreas, and ovarian cysts can also be seen in these patients. Among 13 potential types, female-inherited OFDS type I is the most common and it has been reported to be lethal in males. After the identification of the genetic relation of OFDS in 2001, it is now known that, except X-linked OFDS Type I and VIII, generally all types of OFDSs are autosomal recessive. The dentist's knowledge about the syndrome can reduce the development of physical and dental anomalies by facilitating early diagnosis. This article presents a patient with Papillon-Léage-Psaume Syndrome (Oral-Facial-Digital Syndrome Type I).
Keywords: Cleft palate, oral-facial-digital syndrome Type I, Papillon-Léage psaume syndrome
|How to cite this article:|
Kilinc D D, Ozsarp E. Papillon-Léage and psaume syndrome patient with multiple dental and orofacial anomalies. Niger J Clin Pract 2019;22:872-6
| Introduction|| |
Oral-facial-digital syndrome (OFDS) is a group of neurodevelopmental disorders characterized by malformations of the oral cavity, facial features, and the digits. Central nervous system (CNS) anomalies and visceral organ abnormalities, such as kidney, pancreas, and ovarian cysts, can also be seen in these patients., After being reported first in 1941, many different types of OFDSs have been defined. OFDS type I, also known as Papillon-League Psaume syndrome, was reported first in 1954. Of the 13 potential types, OFDS type I is most common and inherited from women. It is reported to be fatal in men and seen 1/50,000–250,000 live births., Except Type I and VIII, generally all types of OFDSs are autosomal recessive.
Oral symptoms of OFDS are clefting of lip, tongue and soft and hard palate; deep palatal vault; multiple tissue folds and hyperplastic frenula; alveolar ridge notching and thickening; bifid or triffid tongue; supernumerary, missing, impacted, retained teeth; enamel dysplasia; open bite; micrognathia; malocclusion and posterior cross bite. Facial symptoms include asymmetry; wide apart eyes; broad nose with different size nostrils; hypoplasia of the malar bones; milia on the face and ears; low-set ears; and dry brittle hair with zones of alopecia. Abnormalities of the digits of the hands and feet could be syndactyly (fusioned digits); brachydactyly (short digits); clinodactyly (curved digits); and polydactyly (extra digits).,
This article presents an OFDS Type I Patient with skeletal Class II malocclusion, isolated cleft soft palate, maxillary transverse deficiency characterized with unilateral posterior crossbite, moderate upper and lower crowding, and impacted maxillary canine.
| Case Report|| |
An 18-year-old female, with OFDS type I, visited our clinic with chief complaints: dental crowding, narrow upper jaw, gummy smile, impacted canine, and speech problems. As the result of the anamnesis, it was found that she had a sister having no syndromes or systemic anomalies and none of the other family members were affected.
The extraoral examination showed that she had increased exposure of the maxillary incisors with her lips at rest; a convex profile; depressed lower nasal bridge; and incompetent lips. There was no apparent facial asymmetry, TMJ symptoms, or oral behaviors. The intraoral examination showed that she had dental Class I malocclusion on both sides with unilateral posterior cross bite; moderate anterior crowding in upper and lower jaw, and retained deciduous upper right canine. Overjet and overbite were 11.0 and 1.5 mm, respectively [Figure 1]. Dental casts supported narrow dental arches, deep palatal vault with a cleft of soft palate, dental crowding, and persisted deciduous upper right canine [Figure 2]. She had characterized symptoms of OFDS type I including isolated cleft in the soft palate [Figure 3],
Impacted upper right canine and a missing lower incisor were observed in panoramic radiograph. [Figure 4]. The cephalometric analysis showed that the patient had a hyperdivergent facial pattern with an enlarged mandibular plane angle with GoGn-SN: 56; mean: 32, and a moderate skeletal Class II relationship with an increased ANB angle: 7.7; mean: 0–4. The patient had a bimaxillary skeletal retroghnathic condition with SNA: 78.1 and SNB: 70.4. The maxillary incisors were moderately proclined with 1-NA: 28.2; mean: 22, the mandibular incisors were mildly proclined with 1-NB: 26.1; mean: 25 [Table 1].
Malformations of the digits of hands and feet were observed. She informed us that she had an operation of digits of her right hand and feet because of polydactyly at the age of 5 [Figure 5] and [Figure 6].
|Figure 5: Brachydactyly and clinodactyly of fifth digit; radiograph and photographs of patient's hands|
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The treatment objectives were to achieve a proper overbite and overjet relationship, dental Class I canine and molar relationships and skeletal Class I relationship, to eliminate crowding, to expand maxillary arch by surgically assisted rapid maxillary expansion (SARME), to extrude impacted canine, and to achieve an optimum facial profile.
In this patient, SARME was applied to expand the maxillary arch. After the expansion, cleft in the soft palate mucosa was enlarged. Surgical consultation indicated that the space was limited to the mucosa and there was no oroantral fistula [Figure 7]. The anterior arms of the RME appliance were cut and retention of the expansion was obtained using the same RME appliance having only the posterior arms. Brackets were applied for dentoalveolar alignment in the third month of retention. After leveling and alignment, and extraction of deciduous canine, impacted canine erupted spontaneously. In this period, the enlargement in the cleft soft palate mucosa was reduced [Figure 8].
|Figure 7: Occlusal radiograph of maxillary expansion after SARME and enlargement of cleft soft palate|
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The post-treatment cephalometric results of the patient showed that the moderate proclination of the upper incisors and mild proclination of lower incisors were corrected with final 1-NA: 23, mean: 22; and final 1-NB: 25; mean: 25. The overjet was reduced from 11 to 3 mm and the final overbite was 3 mm. A proper overbite and overjet relationship, dental Class I canine, and molar relationships were achieved successfully. Skeletal changes were clinically and radiologically insignificant [Table 1] and [Figure 9],[Figure 10].
| Discussion|| |
OFDS type I, also known as Papillon-Léage-Psaume Syndrome, was reported first in 1954, and then in more detail in 1962 by Gorlin and Psaume. It was reported to be lethal in males. OFDS is a group of symptoms, including malformations of the face, oral cavity, and digits. Brain malformations and visceral organ symptoms like polycystic kidneys could be seen.,,,,
Cleft of soft or hard palate was reported as one of the frequent symptoms of OFDS type I.,, In compliance with the literature, our patient had abnormal shaped thickened palatal gingiva and isolated cleft soft palate associated with transverse maxillary arch deficiency and unilateral posterior crossbite, which were corrected by SARME and over-retention. Dental anomalies were also reported in OFDS type I patients in the literature.,,, Our patient had enamel anomalies in upper central incisors; persisted upper right deciduous canine, impacted upper right permanent canine, missing lower incisor, gummy smile, and excessive maxillary gingival appearance. Fixed orthodontic treatment solved dentoalveolar problems of our patient. However, skeletal changes were clinically and radiologically insignificant and this was related to the fact that patient was skeletally mature at the beginning of the treatment.
The probability of CNS anomalies are also reported in the literature by 40% of patients with OFDS type I, including anomalies of brain and mental retardation.,,, Our patient did not have any brain anomalies, mental retardation, or learning disability.
It was reported that digits of the hands were affected more than the digits of the feet including polydactyly, clinodactyly, brachydactyly, and syndactyly.,, Although our patient had normal sized hands and feet, brachydactyly affected the fifth digit of her right hand. She had polydactyly in her right hand between fourth and fifth digits; also in both right and left feet between fourth and fifth digits and next to first digit, which were operated at the age of 5.
Polycystic kidney, pancreas, and ovary diseases may be seen in patients with OFDS type I.,,, Our patient did not have kidney and pancreas organ anomalies, but she reported ovarian cystic lesions, which were under the control of a physician.
| Conclusions|| |
The patient with OFDS type I syndrome with multiple dental and orofacial anomalies was diagnosed and treated by multiple orthodontic and dentofacial orthopedic applications. Orthodontists should be aware of the syndrome for early diagnosis and effective treatment of patients.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s)/parents has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients/parents understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]