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Hallermann-Streiff Syndrome: A Rare Case Report
Journal of Indian Academy of Oral Medicine and Radiology, July-September 2011;23(3):237-240 237
JIAOMR
Hallermann-Streiff Syndrome: A Rare
Case Report
1Vibha Jain, 2Upasana Sethi, 3Shilpa Dua, 4Anshuman Ahuja, 5Greeshma Wali B
1Professor and Head, Department of Oral Medicine and Radiology, ITS Dental College, Greater Noida, Uttar Pradesh, India
2Reader, Department of Oral Medicine and Radiology, ITS Dental College, Greater Noida, Uttar Pradesh, India
3Senior Lecturer, Department of Oral Medicine and Radiology, ITS Dental College, Greater Noida, Uttar Pradesh, India
4Reader, Department of Oral and Maxillofacial Surgery, ITS Dental College, Greater Noida, Uttar Pradesh, India
5Senior Lecturer, Department of Oral and Maxillofacial Surgery, ITS Dental College, Muradnagar, Uttar Pradesh, India
Correspondence: Vibha Jain, Professor and Head, Department of Oral Medicine and Radiology, ITS Dental College, Greater
Noida, Uttar Pradesh, India, e-mail: vibhajain02@yahoo.co.in
CASE REPORT
ABSTRACT
The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by distinctive craniofacial malformations and significant
orodental abnormalities. A relative lack of dental literature regarding this syndrome has been noted. Most cases of Hallermann-Streiff
syndrome occur randomly for unknown reasons and may be the result of mutations, or changes to the genetic material. A 15-year-old girl
presented with almost all the classical signs of HSS except congenital cataract. A thorough medical and dental examination was performed.
Opinion by the gynecologist, ophthalmologist and ENT specialist were considered. These patients require an interdisciplinary preventive
treatment.
Keywords: Hallermann-Streiff syndrome, Dyscephaly.
INTRODUCTION
Hallermann-Streiff syndrome (HSS) is a rare genetic condition
which involves multiple congenital abnormalities chiefly
affecting the head and the face. Around 150 cases have been
reported in the literature worldwide.1
HSS was first incompletely described by Aubry in 1893.
It was then known as Oculomandibulo-Dyscephaly syndrome
or Francois Dyscephalic syndrome. Later, Hallermann (1948)
and Streiff (1950) acknowledged this entity as separate from
progeria and mandibulofacial dysostosis and coined the
syndrome as Hallermann-Streiff syndrome.2
In 1958, Francois reviewed 22 published cases and
described diagnostic criteria for this syndrome. These include:3
1. Dyscephalia and bird face
2. Dental anomalies
3. Proportionate nanism
4. Hypotrichosis
5. Atrophy of the skin
6. Bilateral micropthalmia
7. Congenital cataract.
Virtually all cases of the HSS are sporadic and are usually
not associated with chromosomal anomalies.3 However, Gerinec
et al4 have reported the occurrence of this syndrome in two
generations; and Schanzlin et al5 reported a chromosomal defect
associated with it. There is no sex predilection. The syndrome
has been described as concordant and discordant in monozygotic
twins, and an affected female giving birth to two normal children
has also been reported.6
CASE REPORT
A 15-year-old female patient reported to the Department of
Oral Medicine and Radiology with the chief complaint of
missing teeth with no history of any past dental treatment. The
pattern of eruption sequence of deciduous and permanent teeth
was not known. The patient was born after an uncomplicated
full-term pregnancy of a nonconsanguineous marriage with birth
weight 1.5 kg. Her mother’s obstetric history revealed no record
of systemic disease or drug administration. She is the eldest
child with her parents and her only sister shows no specific
findings. Her medical history revealed feeding problems during
infancy, symptomatic treatment taken for recurrent respiratory
tract infections since childhood, and decreased visual acuity
for which no treatment was taken. Patient has not achieved
menarche till now.
Physical examination of the patient’s face revealed frontal
bossing, small and thin face, slanting palpebral fissures, bilateral
microphthalmia, beak shaped nose accompanied with
microstomia and retrognathia. Skin of the face appeared dry
and thin. There was slight bluish tinge visible on sclera and
hypotrichosis of the scalp and eyelashes are apparent (Figs 1
and 2). The patient was mentally retarded and had a
proportionate nanism. Extremities did not reveal any significant
findings.
Intraoral examination revealed partial anodontia. The
existing teeth exhibited enamel hypoplasia, grayish yellow
discoloration and were irregularly developed with altered
morphology of the crowns thereby making their identification
10.5005/jp-journals-10011-1136
Vibha Jain et al
238 JAYPEE
difficult (Fig. 3). There was gingival recession present in all
the teeth and was markedly apparent in upper first quadrant.
The palate was high arched and V shaped (Fig. 4). After
thorough clinical examination patient was subjected to series
of investigations. No significant finding was detected in
hematological investigation.
Orthopantomography revealed absence of numerous
permanent teeth and a retained deciduous tooth. The teeth
present showed decreased thickness of enamel and dentin,
markedly enlarged pulp chambers and canals, stunted roots; all
features suggestive of ghost teeth. There was generalized
horizontal bone loss present in both the arches. The mandibular
body was small with no antegonial notch. The mandibular rami
were hypoplastic. The trabeculae appeared to be dense with
decreased marrow spaces giving the appearance of generalized
opacification (Fig. 5).
Lateral cephalogram showed calvarial thickening, frontal
bossing, midfacial hypoplasia with concave profile. Rickett’s
cephalometric analysis showed skeletal and dental class III
malocclusion due to maxillary retrognathia (SNA: 70º, SNB:
75º, ANB 5º, a mild overjet (1 mm), openbite (13 mm) and
average growth pattern (SN-GoMe: 30º. Upper anteriors were
proclined (U1-SN 116º) and lower anteriors retroclined (73º)
(Fig. 6).
The radiographs of long bones showed no significant
changes.
Based on the clinical findings, the possible differential
diagnosis of: mandibulofacial dysostosis, HSS and progeria
were formulated.
Patient was referred for ophthalmological, gynecological
and ENT opinion for further evaluation. Ophthalmological
findings reported were bluish sclera, nystagmus, micro-
phthalmous, disorders of refraction and accommodation,
sluggish and irregular pupil, glaucoma and microcornea.
Gynecological investigations did not reveal any abnormality
other than absence of axillary and pubic hair and non-
commencement of menstrual cycle corresponding with the age.
ENT findings reported were small nares, glossoptosis,
tracheomalacia, narrow airway passage, and abnormal glottis
closure.
The case reported here presented all the essential features
of the HSS with the exception of congenital cataracts; hence
the diagnosis of HSS was made.
Patient was immediately included in an interdisciplinary
preventive-care program, subjecting her to detailed oral hygiene
instructions, dietary recommendations, counselling of the
parents and regular dental visits. Patient is advised oral
prophylaxis, extraction of grossly carious and mobile teeth,
RCTs in all the existing teeth followed by abutment preparations
for overlay dentures.
DISCUSSION
Hallermann-Streiff syndrome is a rare genetic condition which
causes characteristic facial features, visual abnormalities, tooth
problems, short stature, and occasionally mental impairment.7
The etiology of HSS seems to be an asymmetric second
arch defect which arises during the fifth or sixth gestational
week.8 In literature, although there are only few described cases
of HSS with chromosomal abnormalities, most studies revealed
normal chromosomal analysis.5 We did not perform
chromosomal analysis in our case. The possibility arises that a
single sporadic mutant gene is responsible.9
Francois analysed clinical manifestations of 22 cases and
gave the diagnostic criteria for HSS. Our case revealed
dyscephalia and bird face, dental anomalies, proportionate
nanism, hypotrichoisis, atrophy of the skin, bilateral
micropthalamia except for congenital cataracts. Additionally
our case showed mental retardation (IQ < 61/65) which is
reported only in 15% of cases.6 Positive clinical features of
HSS present in our patient with their % of occurrence is shown
in Table 1.
The Hallermann-Streiff syndrome can be distinguished from
the pseudoprogerial Hallermann-Streiff (PHS) syndrome,
Fig. 2: Lateral profile showing facial concavity
Fig. 1: Clinical facial features of patient with HSS
Hallermann-Streiff Syndrome: A Rare Case Report
Journal of Indian Academy of Oral Medicine and Radiology, July-September 2011;23(3):237-240 239
JIAOMR
Fig. 3: Mandibular arch showing partial anodontia
with grayish yellow discoloration of teeth
Fig. 4: Maxillary arch showing partial anodontia and
hypoplastic teeth
Progeria, Wiedemann-Rautenstrauch syndrome, Seckel
syndrome, Mandibulofacial Dysostosis, and Mandibuloacral
Dysplasia. The PHS syndrome in addition has severe spastic
quadriplegia and appearance at birth is normal except for
absence of eyebrows and eyelashes. Progeria differs from the
HSS because of premature arteriosclerosis, nail dystrophy,
acromicria, and chronic deforming arthritis; the eyes are normal.
Wiedemann-Rautenstrauch syndrome is a progeroid disorder
characterized by large hands and feet as compared to HSS.
Seckel syndrome is easily distinguished from the HSS on the
basis of prominent eyes without cataracts, malformed ears,
normal temporomandibular joints, cutaneous atrophy and
absence of hypotrichosis. Mandibulofacial dysostosis differs
from HSS as it usually has lower eyelid colobomas and
associated ear anomalies. Mandibuloacral dysplasia shows for
abbreviated terminal phalanges with acroosteolysis which is
absent in HSS.6
Dental anomalies are common and may include natal and
neonatal teeth, absence of teeth, premature eruption and
persistence of deciduous teeth, supernumerary teeth, malformed
teeth, enamel hypoplasia, severe and premature caries.
Crowding, malocclusion and open bite occurs frequently due
Fig. 6: Lateral cephalogram showing midfacial hypoplasia with
concave profile
Fig. 5: OPG showing numerous missing permanent teeth and
presence of ghost teeth
to micrognathia even though the teeth are smaller than normal.
Even worse, severe agenesis of permanent teeth and delayed
eruption of existing teeth are frequent findings.10-12 Hence, every
effort should be made to preserve prematurely erupted
deciduous teeth to facilitate future nutritional intake and prevent
unfavorable sequelae, until the existence of successional
permanent teeth can be confirmed.
There have been multiple case reports concerning the
potential difficulties in airway management of HSS patients
both intraoperatively; and long term. Upper airway obstruction
may result from small nares and glossoptosis secondary to
micognathia and tracheomalacia. These conditions can
predispose the patients to obstructive sleep apnea, respiratory
insufficiency, pulmonary infection, cor pulmonale and feeding
problems in infancy.8,10 Early deaths of the patients with HSS
due to respiratory challenges necessitate prompt intervention
by an ENT specialist.
Individuals with HSS and their families may also benefit
from the information on the condition and recurrence risks for
future.
Vibha Jain et al
240 JAYPEE
There is no cure reported for HSS. In conclusion, in the
symptomatic management of a patient with HSS, one should
pay special attention to ophthalmologic, dental and upper
respiratory problems. Periodic ophthalmologic and ENT
examination should be performed for early diagnosis of eye
and respiratory complications. The predisposition to severe
dental caries and other dental problems makes it imperative
that strong prevention program is performed, as early as
possible. As with other genetic syndrome genetic counseling
should be performed in all the affected patients.
REFERENCES
1. Lee Myung Chul, Choi Im Jeong, Jung Jin Wha. A case
Hallermann-Streiff syndrome with aphakia. Korean Journal of
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Kayserili Hulya, Aktoren Oya. Craniodentofacial manifestations
in Hallermann-Streiff syndrome. Cranio The Journal of
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3. Francois J. A new syndrome; dyscephalia with bird face and
dental anomalies, nanism, hypotrichosis, cutaneous atrophy,
microphthalmia, and congenital cataract. AMA Arch Ophthalmol
1958;60:842-62.
4. Gerinec A. The Hallermann-Streiff syndrome in two generations.
Cest Oftalmol 1989;45:326-33.
5. Schanzlin DJ, Goldberg DB, Brown SI. Hallermann-Streiff
syndrome associated with sclerocornea, aniridia and a
chromosomal abnormality. Am J Ophthalmol 1980;9:
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6. Cohen MM. Hallermann-Streiff syndrome: A review. Am J Med
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7. http://www.healthline.com/galecontent/hallerman-streiff-
syndrome/5#ixzz1DLLD344DU
8. Mirshekari A, Safar F. Hallermann-Streiff syndrome: A case
review. Clin Exp Dermatol 2004;29:477-79.
9. Dennis NR, Fairhurst J, Moore IE. Lethal syndrome of slender
bones, intrauterine fractures, characteristics facial appearance,
and cataracts, resembling Hallermann-Streiff syndrome in two
sibs. Am J Med Genet 1995;59:517-20.
10. David LR, Finlon M, Genecov D, Argenta LC. Hallermann-
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11. Ahn BD, Kim JW. Hallerman-Streiff syndrome: Those are not
supernumerary teeth. J Pediatr 2006;148:415.
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Table 1: Positive clinical features of HSS present in
our patient with their percentage of occurrence
Low birth weight 36%
Proportionate nanism 45-68%
Hypogenitalism 10-12%
Mental deficiency 15-31%
Micropthalamia 78-83%
Blue sclera 22-31%
Nystagmus 32-45%
Hypotrichosis 80-82%
Skin atrophy 68-70%
Corneal abnormalities 9-14%
Down slanting palpebral fissures 12-13%
Glaucoma 7-11%
Dental abnormalities 80-85%
