CASE REPORT

Orthopedic management of the Robinow

Syndrome patient: Case Report
Mojica Zavel, a Parreaguirre Andrés,b and Alpízar Astridc
San José, Heredia, Costa Rica

ABSTRACT

Robinow syndrome is a rare genetic disease, with key characteristics that affect skeletal and
craniofacial growth and development. The orthodontic management of these patients requires
complex treatment depending on the characteristics and level of severity at which the disease
occurs. In this clinical case, the first orthodontic phase of a patient with severe Robinow syndrome
is addressed, in whom the orthopedic phase begins. The treatment of these patients usually must
have a multidisciplinary approach which must include different medical and dental specialties to
make an accurate diagnosis and treatment to provide the patient with a treatment that fits their
needs.

Keywords: Robinow syndrome, craniofacial, clinodactyly, impacted teeth, fetal-facies

How to cite this article: Mojica Z & Parreaguirre A. (2023). Orthodontic management and Oral
manifestations of Robinow syndrome patient: Case Report.

1. INTRODUCTION
There are two main types of RS: autosomal

R
obinow syndrome (RS) is an extremely recessive Robinow syndrome (ARRS) and
rare genetic disorder with both autosomal dominant Robinow syndrome (ADRS).
autosomal recessive and autosomal There are genetic and clinical features associated
dominant forms, portrayed by specific skeletal to both (Teebi, 1990).
and craniofacial abnormalities which may include
short stature, limb malformations (Shortening) The inheritance, the ARRS type of Robinow
and brachydactyly (Mazzeu et al., 2007). These syndrome is inherited in an autosomal recessive
individuals may present different sets of manner, which means that an affected individual
characteristics which in dentistry might be has two copies of the mutated gene (one from
expressed as teeth crowding, malocclusions and each parent)(Teebi, 1990). While the ADRS is
other dental issues (Roifman et al., 2019). caused by a mutation in a single copy of the gene,
and it can be passed on from one affected parent
Two types of RS exist: Autosomal recessive RS to their child.
(ARRS) and autosomal dominant RS (ADRS).
a
Both clinical and genetic features are linked to Alumni Program in Orthodontics and Orthopedics, School of Health
Sciences, Latin-American Science and Technology University, San Jose,
each one differently (Kirat et al., 2020). Costa Rica.
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CASE REPORT
b
Alumni Program in Orthodontics and Orthopedics, School of Health dento-alveolar conditions to avoid or reduce the
Sciences, Latin-American Science and Technology University, San Jose,
Costa Rica.
c
amount of time of sequent orthodontic
Department of Orthodontics, Latin-American Science and Technology
University, San Jose, Costa Rica. treatments(Basman et al., 2017)(Soman &
All authors are in the process of completing and submitting the ICMJE Lingappa, 2015.).
Form for Disclosure of Potential Conflicts of Interest.

Address correspondence to: Zavel de Jesús Mojica Peña, 10203, Calle

Palermo, San Rafael, Escazú, San José, Costa Rica; e-mail,
This paper aims to provide an overview of the
[email protected]. challenges and considerations involved in
Under submission and revision process, November 2023. managing orthopedic treatment for patients with
RS, providing insights into the importance of an
early customized orthopedic patient approach,
Genes such in ARRS such as ROR2 and DVL1
discussion close collaboration among specialists,
that might could have mutations, these mainly
and the need for posterior orthodontic managing
have been linked to autosomal recessive Robinow
as well as to monitoring to ensure the best
Syndrome. On the other side the Dominant form
possible outcomes.
of Robinow’s syndrome has been shown to have
mutations related to the DVL gene (Kirat et al.,
2. CASE REPORT
2020).

A 11-year-old female accompanied by her mother

Independently of the variety of the RS, conditions
who is also the patient’s legal custodian applied
may vary in different individuals, and both show
to the Department of Orthodontics and functional
common clinical features such as short stature,
Orthopedics of the Latin-American University of
limb malformations, skeletal malformations as
Science and Technology in San Jose, Costa Rica.
well as orofacial deformities (Yang et al., 2020).
Her chief complaint was that the delay of the
dental eruption pattern, with misaligned and
In relation with to the prevalence ARRS is
missing permanent teeth.
generally considered to be rarer than the
autosomal dominant form. ADRS is also rare but
Medical anamnesis revealed that the patient had
may be more commonly diagnosed due to its
been diagnosed with ARRS at childhood. Her
inheritance pattern (Kirat et al., 2020).
mental health was normal. The patient reported
the presence of clinodactyly, non-disclosed
A multi-disciplinary approach is necessary to
cardiac disease, dwarfism, flat-face,
solve the needs of each RS patient. Ideally,
exophthalmia, astigmatism, myopia, and spinal
there’s a need for a team of professionals
problems (Figure 1) (Table 2). Physical
involving orthodontist, medical practitioners, and
examination revealed a short stature, vertebral
oral and maxillofacial surgeons to work together
anomalies, lordosis, mesomelic limb shortening,
and provide patient-centered care tailored to aid
short-broad and missing fingers and toes,
the RS patient’s specific needs (Basman et al.,
flattened and widened face (Figure 5).
2017).

The eyes were prominent and bilateral proptosis

Orthopedic treatment was elected as the first
was observed. Intraoral examination showed
phase for this RS individual management since it
insufficient dental spacing with mixed and
treats early conditions of the musculoskeletal
delayed dentition and early occlusal
system. It may involve the use of different oral
interferences.
appliances to perform an early intervention to
address malocclusions to improve facial and

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Figure 1. Initial records extra oral and intra oral photographs.

2.1. DIAGNOSIS Radiographic evaluations (Figure 2) showed that

teeth number #1.5, 1.4, 1.3, 1.2, 2.2, 2.3, 2.4 and
On clinical examination, the maxillary and 2.5 are misaligned and impacting permanent
mandibular first molars didn’t erupt completely, dental structures. Since the panoramic x-ray
so were not in occlusion and rotated distally (Figure 2) was not conclusive to discard root
(Figure 2). All first molars were within the arch reabsorption or other pathologies, CT was taken
form with no evidence of any pathologies. During (Figure 6) for further study and better treatment
the intra oral checkup there were still plenty of planning. The diagnosis was made to be an
primary teeth with spacing between teeth (Figure eruption disorder associated to RS.
1). Patient presented all primary E and D teeth, as
well as upper C’s and lower left C. Dental The overjet of the patient is slightly increased and
eruption delayed is a common characteristic in is of 4mm, while the overbite is within an open
RS which is also present in this patient as well as bite according to the Roth system, with 1.5mm.
to small and narrow arches. None of the The upper mid line is coincident to the palatal mid
deciduous structures presented mobility. line and the lower mid line is 1.5mm deviated to
the right side.

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incisors and proclined upper incisors. With a
Lateral cephalogram analysis (Figure 3) showed tendency to have an hypodivergent face pattern
a skeletal class III patient with normal A-P according to Go-Gn to SN (Mandibular plane
position of maxilla and mandible. Lower incisor angle).
(Table 1) shows the proclined lower central

2.2 TREATMENT OBJECTIVES

The treatment plan was to initially start the
Treatment objectives were to increase the patients treatment with orthopedic devices on maxilla and
confidence by positioning her teeth in an aesthetic, in a second phase treating the mandible.
functional and stable smile, also to establish a Posteriorly, during a third phase to be managed
canine class I and molar class occlusion, ideal comprehensively with fixed orthodontic
overjet/overbite, and to advance the maxillary appliances.
point A to improve facial profile proportions.

Figure 2. Initial panoramic radiograph.

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Figure 3. Initial lateral cephalogram and tracing

Table 1. Initial lateral cephalometric measurements

Specific measurements were selected from Steiner, Ricketts, Wits and Tweed analysis as guidance

crowding and avoid root resorption cause by the

2.3 TREATMENT ALTERNATIVES misalignment and delay eruption.

Alternative treatment plans include enucleation Another option was to manage the case with
of upper two second premolars to deal with the micro implant-assisted rapid palatal expansion

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(MARPE) to treat transversal problems, and later providing oral hygiene guidance. In the beginning,
to have LeFort I Orthognathic surgery to extraction of lower left C was ordered, and it was
reposition maxilla and jaw to achieve a proper planned to be designed and cement a modified
bite and facial balance. Using fixed orthodontics Hyrax rapid palatal expansion device
to deal with the misalignment during all the (Modifications include posterior bilateral bite
phases of the treatment. These options would be rams, anterior springs, and buccal hooks for extra
possible only after patient’s skeletal maturation, oral facial mask) (Figure 4).
so wouldn’t be addressing the current issues. The
patient and her family approved the publication One week after the cementing of the Hyrax with
of the treatment records. metal bands, the patient didn’t present any
discomfort or difficulties with oral hygiene. Her
2.4 TREATMENT PROGRESS overall positive attitude for the treatment has
provided her with the ability to adapt her speech
Given the patient's youthful age, the focus during and eating abilities to the device without issues.
the visiting sessions consistently focused on

Figure 4. Modified Hyrax rapid palatal expander.

Extra Oral findings

(Mazzeu et al., 2007) (Beiraghi et al., 2011) (Basman et al., 2017) Present Case
ADRS (%) ARRS (%) ADRS (%) ARRS (%) ARRS ARRS
Flat face 100 100 100 100 + +
Fontal bossing 79 78 33 67 + +
Orbital hypertelorism 44 100 78 100 + +
Midface hypoplasia 81 94 33 67 + +
Depressed nasal bridge 78 49 44 100 + +
Wide nasal bridge 97 95 89 100 + +
Short nose 81 93 100 100 + +

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Upturned nose 87 97 78 100 + +

Anteverted nares 100 96 89 100 + +
Triangular mouth 65 86 22 100 + +
Down-slanted mouth 63 95 44 100 + +
corners
Micrognathia 57 68 22 0 - -
Retrognathia 96 37 33 33 - +
Intra Oral findings
Bifid tongue 39 59 67 67 Fissured tongue -
Gingival hyperplasia 36 71 78 67 + -
Dental malocclusion 49 94 0 67 + +
Abnormal uvula N/A N/A 89 67 + -
Wide retromolar ride N/A N/A 100 33 - +
Dental crowding N/A N/A 78 33 - +
Flat palate N/A N/A 67 100 + +
Short palate N/A N/A 67 67 - +
Delay of dental N/A N/A 56 67 + +
eruption
Highly arched palate 51.5 14 0 0 + -
Cleft lip/palate 35 13.5 56 0 - -
Microdontia N/A N/A 0 0 - -
Supernumerary teeth N/A N/A 89 0 - -

Table 2. Craniofacial and oral features associated with RRS and DRS
(N/A: Not available, ADRS: Autosomal Dominant Robinow Syndrome, ARRS: Autosomal Recessive Robinow Syndrome).

2.5 TREATMENT RESULTS RS is named after Dr. Meinhard Robinow, a

German-born American pediatrician and medical
The facial profile retained its original appearance geneticist who, along with his colleagues,
following treatment, and the patient's smile described the syndrome in the medical literature
appeared harmonious and attractive. (Wabik et al., 2022). The first time this syndrome
was documented was in 1969 in an article
3. DISCUSION published by Dr. Meinhard Robinow and his team,
which is why it is named after him. His research
Robinow syndrome is a rare genetic disorder was essential to locate, identify and characterize
characterized by a distinctive set of physical and the various signs and symptoms linked to RS.
developmental characteristics. These can vary According to (Jain et al., 2017) "Robinow
between affected individuals, their frequent syndrome (RS) is one of those strange genetic
characteristics are: facial features, skeletal disorders with 200 cases reported around the
anomalies, short stature, growth delay, dental world.
problems, as well as genes and hereditary factors
(Roifman et al., 2019). Orofacial manifestations in patients with SR
include unique facial dysmorphisms, such as a
prominent forehead, a reduced and upturned nose,

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a decreased jaw size, and a wide mouth. It stands which it presents and its complexity in relation to
out for the presence of anomalies at the dental the anomalies seen in the oral cavity may vary
level, the most frequent being: crowding, among patients with said syndrome. It is vital to
anodontia, malocclusion and supernumerary teeth. highlight that its management at an orthodontic
These orofacial characteristics do not intervene in level must be interdisciplinary, covering health
a negative way on an aesthetic level, they also areas such as pediatric dentistry, cardiology, oral
affect various aspects of day-to-day life on a and maxillofacial surgeons. Through this
functional level such as the ability to speak multidisciplinary approach, a comprehensive
clearly and the process to generate the bolus treatment can be ensured that addresses the
correctly, thus generating consequences on the associated systemic problems and all the oral
general well-being of the patient. It is vital to manifestations linked to it.
intervene early in patients with SR since they
pose multiple challenges in orthodontic treatment The orthodontic approach is of vital importance
due to their alterations at the orofacial and in the management of Robinow syndrome,
skeletal level. (R. Mishra et al., 2020). encompassing orofacial manifestations. The
Orthodontic management requires a broad and functional, aesthetic improvement and general
clear understanding of the manifestations of the well-being in the quality of life of patients are
syndrome. some of the factors that benefit, highlighting early
intervention and the multidisciplinary approach
Limited information is available regarding the in the management of the disease. It improves the
prevalence of dental anomalies, such as impacted aesthetics, functionality and general quality of
teeth. Statistical studies based on its frequency life of affected people, underlining the
and statistics related to its frequency based on importance of early intervention and a
dental problems are scarce, thus classifying it as multidisciplinary approach in the holistic
a clinical rarity. One of its associated problems is management of the disease.
impacted teeth; however, the prevalence of this
problem among individuals who present it is not .
well documented in the literature. The way in

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Figure 5. Extra oral examination of the patient releveled clinodactyly, short stature, fetal-facies, vertebral abnormalities, and scoliosis.

Figure 6. Image taken from the CT, showing non root reabsorption of 1.3, 2.3, 1.2 and 2.2

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4. CONCLUSION Conflict of interest: None declared.

This case report adds information about This article is being presented as a written article
orthodontic treatment of RS in the literature. at the Latin-American Science and technology
Interdisciplinary collaboration is useful to University, San Jose-Costa Rica 2023.
provide a comprehensive treatment to the patient.
Health care providers should remain informed REFERENCES
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appropriate precautions when administering Basman, A., Akay, G., Peker, I., Gungor, K.,
dental or orthodontic care. Akarslan, Z., Ozcan, S., & Ucok, C. O.
(2017). Dental management and
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main idea of the treatment plan and had Beiraghi, S., Leon-Salazar, V., Larson, B.,
provisions on all the stages of treatment. A. John, M., Cunningham, M., Petryk, A.,
Parreaguirre contributed to drafting medical & Lohr, J. (2011). Craniofacial and
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characterization of autosomal dominant
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and recessive variants of Robinow
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