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Hallermann-Streiff syndrome: n o

t t r f e o Case report and literature review ssence

Peter Robotta, Dr Med Dent1/Edgar Schäfer, Prof Dr Med Dent2

Hallermann-Streiff syndrome is a rare genetic disorder characterized primarily by head and face abnormalities. Patients show birdlike faces; hypotrichosis; various ophthalmic disorders; and dental abnormalities including absence of teeth, natal and neonatal teeth, enamel hypoplasia, and supernumerary teeth. In addition, delayed eruption of existing teeth and severe agenesis of permanent teeth are frequent ﬁndings. Dental and hereditary disorders can be associated with disturbances during tooth development and cause shortened roots. Short roots are a rare developmental anomaly in the permanent dentition, and the etiology is not well established. The generalized form is extremely rare. Generalized diminished root formation can lead to early loss of teeth. This article provides a case report of a 9-year-old boy with Hallermann-Streiff syndrome. Extraoral examination revealed a brachycephalic head, proportionate short stature, sparse hair, and atrophic skin. His face was characterized by a thin beak-shaped nose and retrognathia, resulting in a characteristic birdlike appearance. Radiographically, all teeth of the permanent dentition showed severely underdeveloped roots and partially underdeveloped crowns. The predisposition to severe dental caries and dental malformations makes it imperative to schedule effective prevention measures, especially since root canal treatment to preserve teeth can be hampered due to underdeveloped roots. (Quintessence Int 2011;42:331–338)

Key words: anodontia, dental anomalies, Francois syndrome, short roots, underdeveloped roots

Aubry1 was the ﬁrst to publish a report of a been described previously in the literature, patient with Hallermann-Streiff syndrome. in 1958, Francois4 summarized 12 published Two independent cases of this syndrome cases and described an additional one. were later published, recognizing it as a After analyzing these cases, he delineated distinct disease entity. Hallermann2 reported the characteristic features of Hallermann- two patients with bilateral congenital cata- Streiff syndrome and described several racts and bird face. In 1950, Streiff3 report- essential signs as diagnostic criteria. In ed a similar case and distinguished the 1960, Falls and Schull15 reported six further syndrome from progeria and mandibulofa- cases under the heading of Hallermann- cial dysostosis. Although the syndrome had Streiff syndrome. Thereafter, the condition was generally known by Hallermann-Streiff syndrome or Hallermann-Streiff-Francois 1Department of Operative Dentistry, School of Dentistry, syndrome. In addition, synonyms includ- University of Münster, Münster, Germany. ing Francois syndrome,6–9 oculomandibu- 2 Central Interdisciplinary Ambulance, School of Dentistry, 10–13 University of Münster, Münster, Germany. lodyscephaly, Francois dyscephalic syndrome,11 and oculo mandibulofacial syn- Correspondence: Dr Edgar Schäfer, Waldeyerstr 30, D-48149 14 Münster, Germany. Email: [email protected] drome can be found in the literature.

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Hallermann-Streiff syndrome is a rare by epithelial and mesenchymal interac-i N

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genetic disorder—only about 180 cases tions. After the growth of the dental crownt t r f es o e have been published to date.9,15 It is a con- is complete, a double layer of cells referred senc genital syndrome characterized by distinct to as Hertwig’s epithelial root sheath is craniofacial abnormalities. Dyscephaly with formed by cells of the outer and inner den- hypoplastic mandibula and a small beaked tal epithelium. The formation of root dentin nose leading to a typical birdlike face (89% requires proliferation of epithelial cells in to 90%); congenital cataracts (81% to 90%); the Hertwig’s epithelial root sheath to initi- hypotrichosis (80% to 82%); microphthal- ate the differentiation of root odontoblasts mia (78% to 83%); skin atrophy (68% to and determine the size, shape, and num- 70%); a short proportional stature (45% to ber of the roots. Disturbances can lead 68%); and dental abnormalities (80% to to root deformities. Slootweg and Huber13 85%) (absence of teeth, natal and neonatal conducted histologic examinations of the teeth, enamel hypoplasia, supernumerary mandible and a removed erupted tooth of teeth, delayed eruption of existing teeth, an infant with Hallermann-Streiff syndrome. and malformed permanent teeth) are the They reported a root dentin anomaly classi- main clinical features of Hallermann-Streiff fied as a combination of irregular dentin and syndrome.16 The etiology of this syndrome osteodentin, premature disintegration of the is unknown. Virtually all cases have been dental lamina, and Hertwig’s root sheath. sporadic, and there is no sex predilection. With regard to dental treatment, mal- Francois demonstrated marked changes in formed crowns and roots confront the prac- the structure of the connective tissue (altera- titioner with special problems. Root canal tions of the elastin) and postulated a primary treatment of teeth with severely underdevel- disturbance in the metabolism of glycopro- oped roots is often impossible. The associ- teins. A dominant succession is presumed. ated difficulties in dental treatment as well The diagnosis of Hallermann-Streiff syn- as the necessity of an early diagnosis and drome is based on the presence of certain multidisciplinary treatment approaches are features, including the characteristic facial, discussed. eye, hair, skin, and dental findings. Since the dominant symptom of patients with Hallermann-Streiff syndrome is cataracts, most cases have been reported CASE REPORT in the ophthalmology literature.16 Although over 180 reported cases can be found in A 9-year-old boy with Hallermann-Streiff syn- the literature, very few considered dental drome and bilateral cataracts was referred aspects.13,17–24 The present report focus- to the Department of Restorative Dentistry, es on the high incidence and variety of Dental School, University of Münster, dental abnormalities in Hallermann-Streiff Münster, Germany, for dental examination. syndrome. Most of the patients revealed Apart from the syndrome, the boy was in dental malformations such as supernumer- good health. He was the youngest son in ary and neonatal teeth, premature eruption a family who emigrated from Kazakhstan of the primary dentition, partial anodontia, in 1994. The two older siblings, a 13-year- agenesis of permanent teeth, and enam- old girl and a 10-year-old boy, showed no el hypoplasia. In addition, malocclusion, conspicuousness. The anamnesis did not hypoplasia of the mandible, crowding, and reveal any other known syndromes in the high arched palate are typical of this syn- family of his nonconsanguineous parents. drome. Although these dental abnormalities The pregnancy and childbirth took their are often observed in Hallermann-Streiff normal course. His physical growth and syndrome, they are poorly defined. The development was retarded; however, his particular aspect of the presented case intellectual stage of development seemed is the occurrence of general underdevel- to correspond to his age. The prime con- opment of the roots and agenesis of the cern was the general mobility and progress- permanent dentition. The morphogenesis of ing loss of teeth. normal tooth root development is regulated

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Fig 1a Maxillary view. i N

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Fig 1b Mandibular view.

The extraoral examination revealed a and transversal underdeveloped maxillary brachycephalic head, a proportionate short jaw with a frontal headbite and a crossbite stature, sparse hair, and atrophic skin, par- on the right side was diagnosed. In general, ticularly in the nose region. His face was the development of the dentition was not in characterized by a thin, beak-shaped nose correspondence with the age of the boy. and retrognathia, resulting in a character- Primary teeth 53, 55, 63, 64, 65, 73, 74, 83, istic birdlike appearance, most strikingly in 84, and 85 (FDI) still existed and showed proﬁle. moderate mobility. Permanent teeth 16, 12, The clinical intraoral examination 11, 21, 22, 26, 31, 41, and 46 (FDI) were in revealed reduced mouth opening (24 mm), eruption and showed a higher mobility of a small tongue, and good oral hygiene. grade II to III (Fig 1). From an orthodontic point of view, a sagittal

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Fig 2 Panoramic radiograph at the age of 9 years.

Fig 3 Panoramic radiograph at the age of 12 years.

A panoramic radiograph taken at 9 years DISCUSSION of age (Fig 2) revealed that all teeth of the permanent dentition as well as the primary Hallermann-Streiff syndrome is a rare con- teeth 55 and 85 showed severely underde- genital anomaly that mainly affects the head veloped roots and partially underdeveloped and face.25 The seven characteristic features crowns. The already erupted teeth 16, 12, of this syndrome are congenital cataracts, 11, 21, 22, 26, 31, 41, and 46 displayed at dyscephaly, proportionate nanism, hypotri- most one third of the normal root length at chosis, skin atrophy, bilateral microphthalmos, this stage of development. The teeth germs and dental anomalies. In the present case, 13, 14, 15, 17, 23, 24, 25, 27, 32, 33, 34, striking craniofacial ﬁndings were noticed, 35, 36, 37, 38, 42, 43, 44, 45, and 47 did including a small, wide head with a promi- not show any signs of root development. nent forehead, a characteristic small jaw Comparison of a panoramic radiograph and mouth with a pinched nose, cataracts, taken at 12 years of age conﬁrmed that no sparse hair, thin skin, short stature, and further root development had taken place. severe dental abnormalities. Differential diag- During this 4-year period, teeth 53, 64, 85, nosis of Hallermann-Streiff syndrome includes and 31 exfoliated, but no new tooth eruption progeria, mandibulofacial dysostosis, and was detected (Fig 3). Wiedemann-Rautenstrauch syndrome.15,26

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Progeria differs from Hallermann-Streiff development. An idiopathic generalized i N

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46,47 syndrome in that the former presents with short-root anomaly is extremely rare. t t r f es o e premature arteriosclerosis, nail dystrophy, The size and morphology of dental roots senc acromicria, chronic deforming arthritis, and exert significant implications in several fields normal eyes. Wiedemann-Rautenstrauch of dentistry: periodontology, orthodontics, syndrome patients may have a somewhat traumatology and restorative dentistry, and similar facial appearance, but do not show endodontics. Endodontic treatment in teeth the ocular findings of Hallermann-Streiff with short or nearly missing roots is associ- syndrome. Mandibulofacial dysostosis and ated with several risks and special prob- Hallermann-Streiff syndrome patients both lems. Preparation of access cavities must be exhibit micrognathia, high palatal vault, and carried out with circumspection because the molar hypoplasia, but the former usually has floor of the pulp chamber could at the same lower eyelid colobomas and associated ear time be the end of the root canal system, anomalies. as in teeth 16, 55, 26, 27, 36, 37, and 46 of The radiographic verification of short the present case (Figs 4a to 4c). Root canal roots based on the relative root length is preparation and obturation must be adapted based on the ratio between root length to the situation, especially in teeth with very and crown length. A ratio of 1:1 or less short, thin roots (teeth 11 and 21) (Fig 4d). is defined as a short root anomaly. If the The main problem of the dental treatment length of the root is shorter than the length in the present case is related to the fact that of the crown, the term rhizomicry is used,27 most teeth of the permanent dentition are which is considered extremely rare in gen- retained. The already erupted teeth prob- eralized form.28,29 The patient in the present ably cannot be conserved for a long time case revealed a generalized root-to-crown due to the disturbed root growth. A toothless ratio of less than 1:1. Based on the lit- jaw will be the consequence. Certainly, an erature, generalized short root anomaly early loss of dentition is associated with ana- can be divided according to the etiology tomical and functional problems. The lack of into familial, syndrome-associated, environ- dental support due to the upgrowth could mental, and idiopathic.30 Short roots may lead to underdeveloped alveolar processes also be observed in dental and heredi- in addition to problems with the temporo- tary disorders such as dentin dysplasia mandibular joint because of overload. type 1 and dentinogenesis imperfecta.31,32 In this case, the expected early loss The affected teeth appear clinically nor- of teeth cannot be treated curatively. The mal, but because of their short or almost dental therapy approach is to care for and missing roots, tooth mobility is markedly conserve the mixed dentition as long as increased and spontaneous exfoliation may possible. In patients with short root anom- occur. Short roots appear along with rare aly, early treatment of caries is essential to underlying systemic conditions such as prevent endodontic treatment. Preventive hypoparathyroidism,33 Stevens-Johnson measures such as perfecting oral hygiene syndrome,34,35 scleroderma,36 Down syn- and fissure sealants are obligatory. A nutri- drome,37 and Laurence-Moon-Bardet-Biedl tion consultation could be advantageous. syndrome.38 Some short-stature syndromes Further important aims of dental treatment (Aarskog syndrome,39 dwarfism of Seckel,40 are reestablishment and normalization of and Rothmund-Thompson syndrome41) mastication, speech, and swallowing as have also been associated with short well as the compensation of the disturbed roots. In addition, case reports described physiognomy. A complex prosthetic and patients with short stature or short roots or orthodontic strategy for congenital abnor- both, but with no recognized syndrome.42,43 malities with oligodontia and anodontia is Environmental effects during tooth develop- necessary for adequate treatment.48–50 In the ment, such as trauma, periapical infection, case of growing patients, fixed partial den- and orthodontic or surgical procedures as tures are not indicated, especially because well as radiation therapy and to a lesser fixed dentures crossing the center line could extent chemotherapy for childhood malig- lead to transversal growth inhibition.51 Age nancies,44,45 may result in diminished root of onset, developmental stage, and patient

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abcd Fig 4 (a) Radiograph of teeth 16 and 46. (b) Radiograph of teeth 26 and 27. (c) Radiograph of teeth 36 and 37. (d) Radiograph of teeth 11 and 21 revealing thin roots.

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