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SHORT COMMUNICATION  
Year : 2012  |  Volume : 23  |  Issue : 1  |  Page : 124
Orodental findings in Hallermann-Streiff syndrome


1 Department of Oral Medicine and Radiology, Government Dental College and Hospital, Ahmedabad, Gujarat, India
2 Department of Oral Medicine and Radiology, Subharti Dental College and Hospital, Meerut, Uttar Pradesh, India

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Date of Submission25-Dec-2010
Date of Decision26-Jul-2011
Date of Acceptance30-Jan-2012
Date of Web Publication26-Jul-2012
 

   Abstract 

Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital abnormalities affecting chiefly the head and face. It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. An interesting case of Hallermann-Streiff syndrome in a 23-year-old female patient is reported here, with the emphasis on the orodental findings.

Keywords: Congenital abnormalities, Hallermann-Streiff syndrome, orodental findings

How to cite this article:
Parikh S, Gupta S. Orodental findings in Hallermann-Streiff syndrome. Indian J Dent Res 2012;23:124

How to cite this URL:
Parikh S, Gupta S. Orodental findings in Hallermann-Streiff syndrome. Indian J Dent Res [serial online] 2012 [cited 2020 Nov 24];23:124. Available from: https://www.ijdr.in/text.asp?2012/23/1/124/99063
 Hallermann-Streiff syndrome More Details (HSS) was first described by Aubry in 1893. Hallermann, in 1948, gave adetailed clinical description of the disease, followed by Streiff in 1950. [1] It is a rare clinical entity ofunknown etiology that affects growth, cranial development, hair growth, and dental development. It is probably due to a developmental disorder in the 5th -6th gestational week that results in an asymmetric second branchial arch defect. The most likely hypothesis is that a single mutant (dominant) gene is responsible, with most cases representing fresh sporadic mutations with no chromosomal abnormalities. Recently, a defect of elastin and abnormal glycoprotein metabolism has been reported in HSS. Only about 150 cases of HSS have been reported till date. [2]

HSS is characterized by seven essential signs, as described by Francois: Dyscephaly (scaphocephaly or brachycephaly with frontal bossing) and typical facies (micrognathia, condylar aplasia, and thin pointed nose); dental anomalies; proportionate nanism; hypotrichosis; atrophy of the skin localized to the head and nose; bilateralmicrophthalmia; and congenital cataracts. [1],[2],[3]

It is known that the dental abnormalities are present in 50%- 80% of the cases; these abnormalities includemalocclusion; openbite; severe caries; enamel hypoplasia; supernumerary and neonatal teeth; hypodontia; premature eruption of primary teeth; agenesis of permanent teeth; and maxillary hypoplasia, with poor development of the paranasal sinuses. [1],[2],[3]


   Case Report Top


A 23-year-old female patient reported to our outpatient department with the chief complaint of generalized pain in the teeth since 3 months. The pain was of a dull aching character and intermittent in nature, with aggravation on mastication. She had been experiencing recurrent cold, cough, and breathlessness for the past 1 year. She gavehistory of recurrent respiratory infections in childhood, multiple caries affecting deciduous dentition, and history of extraction of some teeth due to pain secondary to caries. There was no significant prenatal or family history.

On general examination, the patient was thinly built and had a stooping posture. She had a brachycephalic head and aparrot-beak nose.There was rough-textured thin hair on the scalp and body (the eye lashes were also affected), along with generalized atrophy of the skin. There was complete fusion of the 4 th and 5 th digits of the hand. Ophthalmic examination revealed microphthalmia, hypertelorism, and strabismus [Figure 1]. Her voice had a nasal twang.
Figure 1: The typical bird-like facies and parrot-beak nose, sparse hairs, hypertelorism, and strabismus

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Extraoral examination revealed typical bird-like facies. The temporomandibular joint (TMJ) movement was normal and symmetric. Intraoral examination showed discolored teeth, with microdontia and multiple caries [Figure 2]. Only the fragments of the roots were seen of the broken carious teeth 14, 15, 18, 24-27, 34-36, and 44-48. A grade II mobile 42 was present. The surface of the enamel was smooth, shiny, and hard, with no chipping off of enamel or penetration into enamel surface on applying pressure with a probe. Thus, clinical examination of the teeth was suggestive of enamel hypoplasia, with rampant caries.
Figure 2: The orodental findings: Yellowish discoloration of teeth, with microdontia and extensivecarious involvement

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As the patient presented with syndromic characteristics, the differential diagnoses considered were HSS, mandibulofacial dysostosis, ectodermal dysplasia, and occulodentoosseus dysplasia.

Investigations carried out included radiological examination of whole dentition, TMJ and skull, routine hematologic investigations, ultrasonography of abdomen, and echocardiography. Orthopantomograph [Figure 3] and TMJ tomograph [Figure 4] showed thickened cortex of the mandible, with hypoplastic coronoid and condylar processes bilaterally. The articular eminence was poorly developed and the mandibular fossa was shallow. There was a flattened appearance of the body of the mandible, with short ramiand increased gonial angle bilaterally. There were multiple small carious teeth, with periapical radiolucency in relation to 26, 27, 35, 36, 37, 32, 42, and 43. All teeth showed microdontia. Various skull views were advised; the anteroposterior (AP), lateral, and paranasal sinus view (PNS) showed mild brachycephaly, thick skull vault, deviated nasal septum, and hypoplastic frontal and maxillary sinuses. Hand-wrist [Figure 5] and foot-ankle radiographs revealed bilateral syndactyly involving the 4 th and 5 th digits of hands, with complete soft tissue fusion and bony fusion at the distal phalanges. A flexion deformity was noted at the proximal and distal interphalangeal joints of bilateral 4 th digits of hand. The radiographs revealed absent middle phalanges of bilateral 2 nd -4 th toes and right 5 th digit,of hand withshort middle phalanges of both index fingers and left 5 th digit of hand. There was no abnormality noted in the radiographs of the chest and of thelumbosacral region of the spine. However, the shape of the bony pelvis was abnormal, with dysplastic pubic bone and pubic dilatation. Mild cortical irregularity of the left pubic bone was seen on the radiograph of the pelvis [Figure 6].
Figure 3: Panoramic view depict the dental findings.Hypoplastic condyles and fossa, flat articular eminence, and flattened mandible can be seen

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Figure 4: TMJ tomograph shows the relationship of the articulating surfaces of the TMJ (hypoplastic condyles and fossa, flat articular eminence) in open and closed position

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Figure 5: Hand-wrist radiographs reveal bilateral syndactyly involving the 4th and 5th digits, with complete soft tissue fusion and bony fusion at the distal phalanges

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Figure 6: Radiograph of pelvis shows dysplastic pubic bone and pubic dilatation. Mild cortical irregularity of the left pubic bone is seen.

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There was no major abnormality detected on routine hematological investigations, ultrasonography of abdomen, and echocardiography. However, there was trivial mitral regurgitation/aortic regurgitation and mild tricuspid regurgitation. The left ventricular ejection fraction (LVEF)was 50%. Left ventricle size was normal.

The overall findings were suggestive of HSS and full-mouth rehabilitation was planned. Simultaneously, an ophthalmologic consultation was also obtained, which supported our clinical diagnosis of HSS. After extraction of a few grossly carious, unrestorable, teeth the patient was referred to conservative dentistry department for further treatment. The patient was subsequently lost to follow-up.


   Discussion Top


HSS affects both the sexes equally. According to the literature this syndrome is characterized by seven classical signs (mentioned earlier), of which our patient had five: I.e.,dyscephalia and bird-like face; dental abnormalities; hypotrichosis; atrophy of skin, especially on nose; and bilateral microphthalmia. [1],[2],[4]

Patients with HSS are at high risk of recurrent respiratory tract infections; obstructive sleep apnea; corpulmonale due to anatomical abnormalities of the upper airway; mandibular hypoplasia; and microstomia (as was seen in the present case). [1],[2] Other anomalies reported in such patients are skeletal defects, cardiac defects, hematopoietic abnormalities, and pulmonary anomalies. [1],[3],[5] Some of these abnormalities were seen in the present casealso, e.g., claw hands, syndactyly, underdeveloped paranasal sinuses, and abnormalities of the pubic bone.

In addition to dental anomalies, TMJ anomalies have been reported in HSS patients, including aplasia/hypoplasia of the condyles, anterior displacement of the condyles, and anterior disk displacements. The presence of these abnormalitiesisof great help in differentiating this condition from occulodentoosseus dysplasia. [1],[3],[4] The orodental abnormalities in the present case (confirmed by radiographic examination) were in the form of severely carious hypoplastic teeth, bilateral hypoplastic condyles and coronoid processes, shallow glenoid fossa, and underdeveloped articular eminence.

The differential diagnoses to be considered are progeria (Hutchinson-Gilford), mandibulofacial dysostosis and cleidocranial dysostosis, pyknodysostosis, Franceschetti mandibulofacial dysostosis, ectodermal aplasia and dysplasia, and occulodentoosseus dysplasia. [3],[4],[5],[6] Francois mentioned five negative signs that can help differentiate the syndrome from others (as in our patient); these are (1) absence of anomalies of the ears; (2) absence of the anomalies of the palpebral aperture; (3) absence of muscular atrophy, chronic arthritis and deformities of joints,andpremature arteriosclerosis (seen in progeria); (4) absence of anomalies of the nails and extremities (seen in certain ectodermal dysplasia and dyscephaly); and (5) absence of mental backwardness and any neurological defect. [6]

Medical treatment in these patients is not required after patients reach adulthood, thoughsome ophthalmologic and cosmetic problems may need attention. [2] However, little data is available regarding dental procedures done in these patients, the alternative treatments that have been tried out, and future possibilities. However, little data is available regarding dental procedures done in these patients, the alternative treatments that have been tried out, and future possibilities are not yet satisfactory. An interdisciplinary approach, early preventive care programs, detailed oral hygiene instructions, and regular dental visits are essential for patients with HSS. [1]


   Conclusion Top


Despite the rarity of this syndrome it should be considered in the differential diagnosis of craniofacial syndromes. Early diagnosis through the oral findings is possible, especially when these are associated with history of recurrent episodes of respiratory infections, ocular abnormalities, and skeletal and TMJ abnormalities. Proper motivation and psychological support by providing a well-functioning permanent dentition and an esthetically satisfying facial appearance is of utmost importance.


   Acknowledgment Top


I would like to acknowledge my patient for letting me use her pictures for academic and educational purpose.

 
   References Top

1.Kirzioðlu Z, Ceyhan D. Hallermann-Streiff Syndrome: A case report from Turkey. Med Oral Patol Oral Cir Bucal 2009;14:E236-8.  Back to cited text no. 1
    
2.Shiomi T, Guilleminault C, Izumi H, Yamada S, Murata K, Kobayashi T. Case Study: Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. Eur Respir J 1999;14:974-7.  Back to cited text no. 2
    
3.Tuna EB, Sulun T, Rosti O, Abdallah FE, Kayserilli H, Aktoren O. Craniodentofacial manifestations in Hallermann-Streiff syndrome. Cranio 2009;27:33-8.  Back to cited text no. 3
    
4.Gorlin RJ, Pindborg JJ, Cohen MM. In: Syndromes of the head and neck 2 nd Ed: New York City, U.S: McGraw Hill; 1976. p. 557-61.  Back to cited text no. 4
    
5.Steel HH, Akbarnia BA, Lang BD. Bilateral Dislocation of the Hip in Hallermann-Streiff Syndrome: A Case Report. J Bone Joint Surg Am 1975;57:1002-4.  Back to cited text no. 5
    
6.Srivastava SP, Jain SC, Nema HV. Mandibulo-oculo-faclal dyscephaly. Br J Ophthal 1966;50:543-9.  Back to cited text no. 6
    

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Correspondence Address:
Shilpa Parikh
Department of Oral Medicine and Radiology, Government Dental College and Hospital, Ahmedabad, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-9290.99063

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    Figures

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

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    Abstract
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