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Forensic Facial Approximation of
Achondroplastic Dwarf from
Medieval Cemetery in Central
Europe
Cicero Moraes
¹*
Marta Krenz-Niedbała
²
Sylwia Łukasik
²
Camilo Serrano Prada
³
¹ Ortogonline Treinamento em Desenvolvimento Profissional e Consultoria, Sinop, Brazil
² Institute of Human Biology and Evolution, Faculty of Biology, Adam Mickiewicz University in
Poznan, Poznań, Poland
³ San Marcel Clinic, Manizales, Colombia
* Correspondence to Cicero Moraes. Email: cogitas3d@gmail.com
Abstract
Achondroplasia (ACH, achondroplastic dwarfism) represents the most common
form of skeletal dysplasia, occurr ing in c. 4 out of every 100,000 births. This stu dy
presents a computer-based facia l approximation of the skull of a male individual
suffering from ACH, who died at 30-45 years of age and was buried in Łekno,
Poland between the 9th and 11th cen turies AD. For the approximation proced ure,
soft tissue data from CT scans and ultrasoni c measurements performed on living
individuals were used. Additionally, the anatomical deformation technique was
applied to arrive at the most reliable reconstruc tion of the dwarf’s appearance. T o
our knowledge, this is the first recreation of a person with achondroplasia, and one
of the few showing a head of an individual suffering from a hereditary disease, with
dimensions and shape differing from the population average values.
Keywords
: facial approximation, facial recons truction, 3D method , human bones,
dwarf, skeletal remains , achondroplasia.
Highlights
- Forensic facial approximation of an achondroplastic dwarf from 9th–11th
century AD has been performed as the first in the world
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- The applied procedure included CT of a virtual donor
- Anatomical deformation technique allowed to extract the endocast, revealing a
large volume of the endocranium
- Few measurements applied to the facial skeleton proved successful in
identification of a person suffering from achondroplasia
1. Introduction
1.1. Facial Approximation
Facial approximation, which is aimed to recrea te a perso n’s facial appe aranc e from
the skull, is mainly used in three scientific disciplines: forensics,
paleoanthropology and archaeology (Gietzen et al. 2019). In forens ics it serves for
personal identification, while in paleoanthropology and archaeology it is used to
visualize the facial appearance of archaic huma ns or people from the distant past
(Wilkinson 2010). The latter is mainly performed for educational and social
purposes, such as disseminatio n of knowledge through recons tructions of famous
historical figures, like Tutankhamen or King Richard III, and also to enable
comparison of appearance of past and co ntemporary faces. There i s also a growing
number of reconstructions of common people from distant societies
(https://www.livescience.com/gallery-of-reconstructions). Some applications of
facial approximation in anthropological and medical sciences refer to the
interpretation of trauma and disease, in which they constitute an aid in the
analysis of facial appearance rel ating to ancient diseases, medical treatment, an d
hereditary conditions (Wilkinson 2010), such as in the case of facial trauma of
Philip II Macedon from ancient G reece, and a me die val English soldier exhibi ting a
healed injury to the mandible (Wilkinson, Neave 2003).
The reconstruction techn iques can be two dimensional (2D) or three dime nsional
(3D), and either manual or computerized (Gup ta e t a l 2015) . With the advancement
in 3D and software technologies computer-based methods have been increasi ngly
applied, because they can provide consistent and objective, efficient, and cost-
effective results (Gietzen e t al. 201 9). This approach brings together anthropology,
osteology, anatomy, computer science and archaeo logy not only to obtain the most
accurate anatomical recons truction, but also to take into account such fe atures as
hairstyle, pigmentation, and clothing (Wilkinson 2010).
1.2. Achondroplasia
Achondroplasia (ACH, achondroplastic dwarfism) represents the most common
form of skeletal dysplasias, which is also the most frequently found type of
dysplasias in bioarchaeological record. It belongs specifically to
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chondrodysplasias, which result from genetically determined abnormal cartilage
formation (Lewis 2019). Achondroplasia is a congenital, hereditary, and familial
disease with an autosomal dominan t mode of inheritance, but is m ost commonly
caused by a de novo germ cell mutation (Foreman et al. 2020). Worldwide there are
about 250,000 affected people (Pauli 2019). I n modern European populations the
pooled birth prevalence per 100,000 median is 3.5 (Foreman et al. 2020), and
specifically in Poland, Wielkopolska region, the area the individual discussed in
this study originates from, it is 4.47 per 10 0,000 births (Coi et al. 2019). The most
obvious result of severe inhibition of cartilage proliferation in achondroplasia is
reduced body height, which is 130 cm on average in adult males and 125 cm in
females (Pauli 2019). It should be emphasized that the stature of males in the
medieval population of Łekno involved in this study was on average 175.8 cm,
based on the formula for femur bicondylar length (Vercellotti et al. 2009). Other
clinical features include disproportional shortening of the limbs relative to the
trunk (rhizomelic disproport ion), thoracolumbar kyphosis, lumba r hyperlordosis,
joint hypermobility, but limit ed exte nsion and ro tation of the elb ow and hip, shor t
fingers and so called “tride nt” hand, with shortene d fingers and ta pering term inal
phalanges. The skull is typically large (macrocephalic) and robust, with frontal
bossing, depressed nasal bridge and midfacial area. The majority of affected
persons have rather normal life expec tancy , al though in mi d-a dult hood there is a n
increased risk for premature death due to cardiovascular complications (Pauli
2019, Julie Hoover-Fong et al. 2021).
The aims of this study were to apply the forensic facial approximation method,
based on the head model of a healthy living person, to reconstruct the appearanc e
of an achondroplastic dwarf from a medieval Central European population, to
compare chosen cranial me tric characteristics o f the ex amined dwa rf wit h the da t a
on healthy individuals, and to apply a method of calculating endocranial volume to
discuss this dimension in the achondroplastic vs healthy male.
2. Material and methods
2.1. Examined individual
The present study used two 3D models of the skull belonging to the individual
Ł3/66/90 recovered in 1990 from a medieval cemetery in Łekno, Poland, and dated
to the 9th–11th century AD. The excavated skeletal remains represent a male
individual with a stature of 115 cm, who died at 30-45 years of age (Miłosz 1993;
Matczak et al. 2 022). Researc h per formed by M atczak et al. (20 22) revea le d that he
suffering from achondroplasia, Leri-Weill dyschondrosteosis and ulnar
hemimelia.
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2.2. 3D scanning and model processing
The examined skull was scanned using a high-resolution Artec Space Spider 3D
scanner based on blue-light tec hnology. Bones were ge ntly rota ted 3 60 degrees o n
a turntable and scanned in real- time from differen t angl es collec ti ng data cov eri ng
the area of the whole skull, except two loose teeth (FD I 32, 42), which were not
scanned. Applied technology allowed for capturing high-resolution geometry and
texture of scanned bones with a 3D resolution of up to 0.1 mm and 3D point
accuracy of up to 0.05 mm (https://cdn.artec3d.com/pdf/Artec3D-
SpaceSpider.pdf). To genera te 3 D models Artec Studio 1 5 Pro fessional sof tware was
used (Artec 3D, Luxembourg). Processing 3D scans was performed manually.
Applying the “Don’t fill” option in the hole-filling method allowed for leavin g the
natural anatomical openings in the skull. Then, prepare d models wer e exporte d to
.ply extension and uploaded to the Sketchfab platform as supporting information
for research published elsewhere (see Matczak et al. 2022). Both created models
are available on the Sketchfab account of the AMU Human Evolutionary Biology
Research Team (https://sketchfab.com/lukasik) under the names: Achondroplastic
dwarf - Skull (https://skfb.ly/oB6qv) and Achondroplastic dwarf - mandible
(https:// skfb.ly/oB9Wu).
2.3. Anatomical analysis of 3D skull model
The human skull presents as foll ows: brachycephalic as pect, wi thout bone fissures
in the massive facial skull, with out irregularities on the bone surface, showing a
frontal prominence marked by the absence of a nasal bridge, symmetric al orbits
with an anti-mongoloid arrangement, hypoplasia in the middle third of the face
with accentuated co ncavity in the bilateral ma xillomalar pillar , nasal septum with
deviation to the left in its caudal portion, pyriform aperture and choanae without
stenosis, emergence of the supraciliary, infraorbi tal a n d mental nerves , i n a ddi tion
to superior and inferior orbi tal fissures with bilateral n asolacrimal ducts present .
Maxillomandibular relationship with mandibular prognathism, hypergonia and
what appears to be a fracture line in the mandibular symphysis. Appearance of
atypical condylar morphology, finding flat condylar surfaces and glenoid fossa,
bilateral external auditory canal present. Upper teeth with occlusal surfaces
without recognizable anatomy, absent (FDI) 11,12,13,21,18 and
28,31,32,36,41,42,46. A cavitation lesion can be seen on teeth 26 and 37 with
coronal fracture on tooth 43.
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2.4. Facial reconstruction procedure
The present work uses the same step-by-step approach discussed in Abdullah et al.
(2022), starting with the com ple menta t ion o f the mi ssi ng regio ns of the sk ull (s ee
Anatomical analysis of 3D sk ull model), followed by the projection of the profile
and structures of the face from statistical data (Moraes et al. 2021, Mora es et al.
2022c, Moraes & Suharschi 202 2) generati ng the volume o f the face wi th the aid of
the technique of deformation/anatomical adaptation and the finishing with the
detailing of the face, configuration of the hair and generation of the final images.
All the facial approximation work was carried out in the Blender 3D software
(www.blender.org), using the add-on OrtogOnBlender
(http://www.ciceromoraes.com.br/doc/pt_br/OrtogOnBlender/index.html), which
expands the potential of the native software, such as the possibility of importing
and reconstructing computed tomography scans. The add-on has a submodule
specialized in facial approximation, called ForensicOnBlender
(https://github.com/cogitas3d/OrtogOnBlender/blob/master/ForensicOnBlender.p
y). Both Blender and the OrtogOn Blen der a dd -on ar e open sour ce a nd free , and r u n
on the most popular operating systems currently available: Windows, Linux and
Mac OSX.
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Figure 1
. Steps of the facial approximation of the examined individual: A) Skull with soft tissue
thickness markers, B) Skull with the projected nose and face profile, C) Head CT of the virtual donor
over Ł3/66/90 skull (left), and after the anatomical deformation (right), D) Approximation face of
the dwarf (right) from the virtual donor (left), E) face reconstruction of the virtual donor (left) and
the dwarf (right), F) Interpolation of face profile line from the projected line (left) and using
anatomical deformation (right), G) The interpolated profile line is compatible with the nasal
projection from statistical data, H) Face measurements performed, I) Face with preconfigured texture
and hair, J) Reconstructed face of the dwarf with hair and beard.
The skull aligned to the Fra nkfurt horizontal plane recei ved a series of soft tissu e
thickness markers, corresponding to 31 anatomical points, measured in living
individuals with ultrasound (De Greef et al. 2006). Roughly speaking, these
markers limit the skin in a series of regions, but do not cover some such as the
nose, for example (Figure 1A). Three approaches were use d to project the nose by
Prokopec and Ubelaker (2002), by Gerasimov (1971) (Stephan et al 2003) and by
Moraes et al. (2021) based on lifting the nose in relation to the bones, through
computed tomography. There was a very large discrepancy (Figure 1B), between
the projections for 1971 and 2002 in relation to that for 2021. As this is an individual
with a face outside the pattern studied, initially it was dec i ded to dr aw a nose in the
average of the projections, but e ven so it was left out of the standard deviation of
the newest study, based on CT scans (Fig ure 1B). To complement the coher ence of
the approximate structure, the reconstructed computed tomography of a virtual
donor (Brazilian with European ancestry) was imported containing the 3D meshes
of soft tissue and bones. This structure w as deforme d in order to make the donor's
skull compatible with the Ł3/66/90 skull. When making the
deformation/adaptation in the bones, this restructuri ng reflects in the soft tissue,
generating an approximate and anatomically compatible face with a real head
(Figure 1 C-E), in order to compl ement the projections made with the soft tissue
markers and nose, which despite being very coherent, do not cover all the
structures to be approxima ted. W hen observing t he project ion of the nose with the
anatomical deformation, it is attested that the first was smaller than the second.
The anatomical deformation allows adjusting the outline of the nose and chin
(Figure 1F). When observing the nose tracing more car efully, it is noticed that the
adjustment is compatibl e with the projection from tomogr aphy data (Moraes et al
2021), coinciding with the standard de viation limit (Figure 1G), this may indicate
that , even when dealing wi th a face with part of the stru cture different from the
general average, the proportion of the nose respects the expected projection. The
same cannot be said about the foramen magnum, which r esulte d in a significantly
smaller structure (Hecht et al 1985) than that of the virtual dono r (Figure 1C). To
assess the structure of the soft tissue, some anatomical points were placed on the
skull, so that a series of lines corresponding to the limits of the lips, ears, position
of the eyeballs, nasal wings, lower limit of the nose, size of the eyes and others.
Such projections come from stu dies carr ied out wit h CT scans of li ving individ uals
(Moraes et al. 2022a, Moraes et al . 2022c, M oraes & Suh arschi 2022) and the resul t
in the approximation of the individual Ł3/66/90 was within the expected
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parameters (Figure 1H). Following the approach proposed in the studies by
Abdullah et al. (2022) (Abdullah et al. 2022), a mesh from another facial
approximation was used and deformed/a dapted to be compatible with the current
work, not only in the shape of the face (F igure 1I), but in the configuration of the
beard and hair (Figure 1J).
The endocast of the Ł3/66/90 skull was segme nted with the 3D m esh editing tools
of the Blender software, the volume of the resulti ng mesh was extracted from the
add-on 3D Print Toolbox (https://docs.blender.org/
manual/en/latest/addons/mesh/3d_print_toolbox.html) and the other
measurements were performed with the Measureit add-on
(https://docs.blender.org/manual/en/latest/addons/3d_view/measureit.html).
3. Results
3.1. Dwarf Facial Appro ximation
In the first step of the applied facial approximation method using a
deformation/adaptation approach based on a real donor’s head, a dwarf’s head
appearance has been recreated without spec ific individ ual hair features i n order to
show the details of the face, in p articular the mandibul ar prog nathism ( class III). A
maxillary relationship is ide ntified as skele tal class III anomaly d ue to the marke d
hypoplasia of the midface with maxillary retroposition respect to the mandible,
constituting a marked conca ve facial profile, this jaws d isposition and the marked
maxillary hypoplasia reflects a severe dental class III malocclusion too with deep
bite. It is noteworthy that the mandibular condyles in the specimen are incomplete,
so it is possible that the dentofacial anomaly in life was more severe than what is
seen in the reconstruction (Jacobson et al. 1974). We generated an image based on a
more simplified color palette that resembles a sepia tone (Figure 2).
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Figure 2
. Face of the individual examined without hair and beard.
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Figure 3
. Face of the individual examined with hair and beard.
In the second step hair features have been a dded. The image with beard, ey ebrows
and hair, even though it is more subjective, humanizes the individual, allowing
better recognition by the general popula tion, not specia lists in forensic sc iences or
even archeology (Figure 3).
3.2. Skull dimensions of dwarf and individuals unaffected
by ACH
The authors took advantage of the opportunity to analyze the population
distribution factor based on proportions based on the fro ntomalar orbital dista nce
(fmo-fmo) (Moraes et al. 2022 d). The sample of 213 skulls inclu des the ACH case
analyzed in the present study (Figure 4). It was possible to attest that the examined
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individual was positioned in a separate location against unaffected people. More
studies are needed to attest to such a trend, involving other cases of
achondroplasia to take into account a greater range of biological variation.
Figure 4
. Positioning of the Ł3/66/90 skull against unaffected individuals. The X axis are the value of
the factor ((g-n)*100)/fmo-fmo), and the Y axis are the values of the factor ((rhi-ec)*100)/fmo-
fmo)(source of comparative data Moraes et al. 2022d).
3.3. Endocranial volume
Once the virtual donor was deformed/adjusted to the Ł3/66/90 skull, it was
possible to extract the endocranium (Abdullah et al. 2021) (Figure 5) and measure
the volume at 1676 ml, which turned out to be two standard deviations above the
mean of 1328 (±164 ml) in a study carried out with modern human skulls
(Neubauer et al. 2018). The approximate soft-tissue head circumference (60.99
cm) was also two standard deviations above the expected mean for adult males
(≈57 ± 1 cm) (PAHO, 2020).
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Figure 5
. Visualization of the endocranium of the Ł3/66/90 individual.
4. Discussion
To our best knowledge, there are not any other facial approximation of an
individual with achondroplasia, which would situate this study as the first of this
kind in the world. With our work we would like to emphasize, that even in cases of
serious skeletal deformations facial appearance can be effectively recreated.
Facial approximation techniques are based on population averages, which are
composed mostly of individuals of normal height. Thus, because we deal here with
a skeletal dysplasia case the approach applied in our paper coul d be treated with
caution. However, nasal projection techniques by proportion of distances and
anatomical deformation circumvent the limitations of conventional methods of
facial approximation Russian, Manchester and American. They are subject to
interpretation of particular anthropologists and subjective experience of the
person performing the manual work. As such mul tiple reconstr uctions o f the same
skull can be produced (Shui et al. 2021). In contrast our computerized
approximation is fully based on statistical data , extract e d from living people. More
studies are needed to confirm the accuracy of the method, which may be difficult to
implement given the rarity of individuals with the same Ł3/66/90 skull pattern.
By publicizing works such as the present one, there is a possibility of putting
conditions such as achondroplasi a up for public debate, whic h highlights the facial
approximation as a popular communication tool, aiming at getting the public
interest. The facial approximation itself benefits from such a project, since the
work does not focus only on known historical figures, but on anonymous
individuals with specific conditions such as dwarfism, syphilis (Jackson, 2022),
cranial remodeling (Solly, 2023), and others.
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In terms of performed cranial measurements, the examined individual with
achondroplasia took a separate position in the plot. Thus it seems that the
measures and factors used are good parameters for distinguishing people with
such condition, which allows rese archers to make such a proj ectio n even if they d o
not have a complete skull available. The most obvious limitation for such an
approach is that it is based on only one individual with achondroplasia. More
studies are needed to ac count for potential greater biological variation, so tha t a
more robust scenario can be formed.
5. Conclusions
Our research for the first time showed a recreation of the facial appear ance of an
achondroplastic dwarf based on 3D models of the skeletal remains and using the CT
image of a virtual donor. This is an average image of an individual suffering from
ACH performed with the use of European average soft tissue measurements. We
found that the cranial metric characteris tics of bioarchaeological remains of ACH
individual are marke dly differ ent from heal thy persons. In tracra nial volume o f the
dwarf exceeds two standard deviations above the mean of unaffected modern
people.
Acknowledgments
To Dr. Richard Gr avalos (Consultório Dr. Richar d Gravalos, São Paulo, Brasil) for
providing the CT scan of the virtual donor, used in the anatomical
deformation/adaptation.
Author contributions
Conceptualization: C.M., M. K.N., S.Ł.; data curation, S.Ł., M .K.N, methodology and
visualisation: C.M., writing—original draft, C.M., M.K.N., S.Ł., C.S.P.; writing—
review and editing, C.M., M.K.N., S.Ł.
Conflict of interests
The authors declare no conflict of interest.
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Data statement
The data that support the facial approximation computerized procedure used in
this study are available from the corresponding author upon reasonable request. 3D
models are uploaded to the Sketchfab platform
https://sketchfab.com/lukasik/collections/achondroplastic-dwarf-
eabdf52c8b2d4cabb63d0b9cf1f374e2.
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