Wildervanck Syndrome: A Narrative Review

In 1952, Wildervanck originally reported the uncommon cervico-oculo-acoustic syndrome known as

Wildervanck syndrome.. It consists of Duane Retraction syndrome (an abnormality in ocular movement)
caused by mutations in CHN1, MAFB, and SALL4; Klippel-Feil anomaly (short neck with low hairline and
fusion in two or more in cervical vertebrae) caused by mutations in MEOX1, MYO18B, and GDF6; and
hearing loss congenital that can happen unilateral or bilateral as the main characteristics of this syndrome. The
clinical manifestations can be a combination of those two or three main features although from previous
studies reported not all cases showed a complete triad of the clinical features. It also has varied clinical
features including microcephaly, hydrocephalus, heart congenital disorder, and intellectual disability. The
oral manifestation is cleft palate. It is a rare genetic syndrome (almost about 90 cases since its first reported,
only a few a cases showed complete clinical manifestations) and the etiology of this syndrome is still not well
defined, it is believed to be an X-linked mutation since it happens more commonly in females and is lethal to
hemizygous males, although there was a case reported where there was a boy affected. Polygenic inheritance
is also reported as the possible cause of this syndrome. Many recent studies explained the genes and the
mutation that happened to those genes that resulted in phenotypes of this syndrome have enhanced our

understanding. In this review, the clinical findings and also the etiology that causes phenotypes of
Wildervanck syndrome, and also the association of epigenetics with Wildervanck syndrome will be discussed.

Keywords: Wildervanck; Wildervanck syndrome; Duane; Duane retraction syndrome; Klippel-Feil anomaly;
cerviooculoacoustic

Introduction
In 1952, Wildervanck originally reported the uncommon cervico-oculo-acoustic
syndrome known as Wildervanck syndrome, a rare genetic syndrome characterized by three
major clinical features: Duane Retraction Syndrome, Klippel-Feil anomaly, and congenital
hearing loss. Wildervanck syndrome primarily affects women and is caused by an X-linked
mutation that is fatal to hemizygous males.. 1–3 In this review, the etiology that causes
phenotypes of Wildervanck syndrome and also the association of epigenetics with
Wildervanck syndrome will be discussed.
Wildervanck syndrome consists of three main features which are Duane syndrome, an
abnormality in ocular movement; Klippel-Feil anomaly, a neck vertebral fusion with

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restricted head movement that is frequently linked to spina bifida cervicalis; and hearing
loss congenital with cleft palate as oral manifestation. Wildervanck syndrome can be
caused by two or three combinations of those main features. 1,3

Wildervanck Syndrome
The main clinical features of Wildervanck syndrome are hearing loss congenital with
abnormality in ocular movement (Duane Retraction syndrome) and short neck, fused
cervical vertebrae, and low posterior hairline (Klippel-Feil anomaly). Other clinical features
are microcephaly, cleft palate, hydrocephalus, congenital heart defect, and intellectual
disability. 1–7

Fig1. Clinical features of Wildervanck syndrome consist of abnormality in ocular movement (top)
and fused cervical vertebrae with short neck and low posterior hairline (bottom) 1,8

The etiology of Wildervanck syndrome is unknown, but it is thought to be caused by a

deadly X-linked mutation in hemizygous men because most cases of Wildervanck
syndrome affect women. But some literature said that polygenic inheritance is considered
to be the cause of Wildervanck syndrome. 1,3,9
The X-linked mutation is believed to be the etiology of Wildervanck syndrome a
condition where a gene on the X chromosome has a variant. Women have two X
chromosomes, whereas men only have one X and one Y chromosome. In women, if there
are disease characteristics on one of the X chromosomes, it can be “masked” with other
normal genes on the other X chromosomes (X chromosome inactivation). However,

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because males only have 1 X chromosome, if they pass on a disease gene on the X
chromosome, the chances of it being expressed are greater. Men who carry the X-linked
dominant disorder gene (hemizygote), it is assumed that there is a full expression of the
disease in association with other diseases that occurred before birth. In women, although
each cell has two X chromosomes, only one copy of the gene is used to produce gene
products and the other X chromosome is inactive. 10,11
A case report of a male with Wildervanck syndrome showed clinical characteristics
that are usually indicated by Wildervanck syndrome, namely hearing loss, bilateral type I
Duane retraction syndrome, and a short neck with low hairline (Klippel-Feil anomaly) 1. In
this case, there was a de novo mutation which are genetic changes that appear for the first
time in a family as a result of a mutation or variant in the ovum or sperm in one of the
parents that appear in the ovum during early embryogenesis 11 (see Fig.2). In this case, there
was a frameshift mutation that happened through microdeletion in Xq26.3 that affects gene
FGF13. 1

FGF13 encodes amino acid 216 which affects neurons intracellularly that plays
important role in brain development. FGF13 also affects cervical, inner ear, and abducens
cranial nerve development. 1

Fig2. A pedigree of proband’s family, he has 8 unaffected siblings and parents that showed a de novo
mutation. 1

Duane Retraction Syndrome

The first main clinical feature of Wildervanck syndrome is Duane retraction syndrome,
an abnormality in ocular movement. Based on Huber classification, Duane retraction
syndrome consists of three types namely type I, an abnormality in abduction movement;

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type II an abnormality in adduction movement; and type III an abnormality in abduction
and adduction movement. Type I DRS and type II DRS are the most common type of DRS.
Genetic analysis has been found that this syndrome associated with mutations in CHN1,
HOXA1, MAFB, DCC, SALL4. 12–14

CHN1
The CHN1 is crucial in giving instructions for the synthesis of the proteins 1- and 2-
chimaerin. These proteins are crucial for the nervous system's early development. They also
help in regulating signaling pathways during the formation and development of neurons and
guiding the growth of axons and dendrites. 15
In the development of cranial nerves VI and III, 2-chimaerin is crucial. Several
extraocular muscles that direct eye movement and determine the position of the eye are
under the control of these cranial nerves. 15

Fig3. A pedigree of a family affected by DRS. 13

Fig4. Mutation in c.637T>G in CHN1 13

Based on the pedigree in Fig3, although there were 11 members of the family affected
by DRS, not all the family members show the same phenotype. One family member was

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affected by DRS type II, six family members had bilateral DRS, two family members only
have DRS in their left eye while five members of the family were affected by DRS type I. 13
According to a case report where there were 11 members of the family affected by
DRS, the missense mutation (point mutation) happened in c.637T>G in this variant causing
valine to be substituted for phenylalanine at position 213 in CHN1 (p.(Phe213Val)). This
mutation cause hyperactivation of α2-chimaerin that changes axon oculomotor and
dynamics of extraocular muscles. 13,15 The mutation in CHN1 is an autosomal dominant
mutation. It is thought that the CHN1 substitution plays a significant part in the
pathophysiology of DRS.

MAFB
MAFB is a gene that encodes transcription factors from basic leucine zip which is
expressed in rhombomere 5 and 6, that controls the abducens nerve needed for patterning
the hindbrain. The absence of MAFB will result in abducens neuron motor failure to
develop. Mutations in MAFB can cause DRS with or without hearing loss. 16
MAFB consists of three main domain functions, namely EHR (extended homology
region) and BR (basic region) which is required for DNA binding and LZ is required for
dimerization (Fig5). 16,17

Fig5. Location of mutation happened in each pedigree 16

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 Fig6. Pedigree of four families affected with DRS caused by a mutation in MAFB 16

Based on Fig6 where there were four families affected by DRS that were caused by a
mutation in MAFB. There is a full deletion in the whole genes in pedigree N but there’s no
mutant in MAFB. There’s a frameshift mutation in the leucine zipper in pedigree FA
(c.803delA (p.Asn268Metfs*125)). In the early extended homology region in pedigree PM,
there’s a frameshift mutation in c.644delA (p.Gln215Argfs*10). In pedigree 0819 there’s a
frameshift mutation in c440delG (p.Gly147Alafs*78). The mutation happened in pedigree
FA and 0819 was a de novo mutation. In pedigree FA, there’s a hearing loss whether it’s
unilateral or bilateral, while in the other pedigree there’s no sign of hearing loss. A full
deletion in pedigree N resulted in bilateral and unilateral type III and unknown type of
DRS. The mutation that happened in pedigree FM resulted in bilateral DRS type I, while
the mutation that happened in pedigree 0819 resulted in bilateral type III and type I of
DRS. 16

SALL4
SALL4 (spalt-like transcription factor) gene belongs to the SALL group and the
mutations in SALL4 play an important role in abducens motoneuron development. 18
Putative zinc finger transcription factors that are encoded by the SALL genes play
significant roles in human malformation disorders. This gene family includes a new
member called SALL4, which can be found on chromosome 20q13.13-q13.2. 19

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 Fig7. Pedigrees of three families affected by DRS caused by a mutation in SALL4 19

Several pedigrees were reported to have frameshift mutation leading to a stop codon
and altered amino acid. A nonsense mutation is also reported to happen in one of the
pedigrees as seen in Fig6. The phenotype of Duane syndrome, which can be unilateral or
bilateral and includes people with a notable or total impairment of abduction with little to
no limitation of adduction, is comparable in both variants. 18,19

Epigenetic Associated with SALL4 Mutation

Although DRS is most likely caused by mutations in CHN1, MAFB, and SALL4,
another epigenetic factor is also reported as one of the causes of DRS. Thalidomide
consumption is believed to be one of the epigenetic factors that contribute to DRS. 20
Thalidomide is a group of immunomodulatory drugs that are usually taken in the first
trimester of pregnancy, usually intended to reduce morning sickness. The consumption of
thalidomide causes disturbances in the transcriptional network through degradation of the
zinc finger transcription factor where one of these zinc finger transcription factors in the
SALL4 gene which acts as a developmental transcription factor that plays an important role
in the formation of proteins in tissue and organ formation when embryonic development.
The SALL4 gene plays a role in the formation of the hands and nerves that control eye
movement. 21–24
Thalidomide or its products bind to molecular targets such as cereblon, SALL4 gene,
and so on, and will result in inhibition of blood vessel formation and resulting in cell death,
changes in gene expression, causing defects in organ or tissue development. The presence
of defects in the development of organs and tissues causes secondary defects in cells such
as failure of innervation of the nerves. 21–24

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 The epigenetic mechanism that occurs in thalidomide consumption that results in
changes in the SALL4 gene are DNA methylase (addition of a methyl group to cytosine)
and histone acetylase (changes in chromatin arrangement and changes in regulating gene
expression) by opening or closing the chromatin structure that will play an important role in
the development and cell cycle differentiation. 21–24

Fig8. Mechanism of thalidomide induced embryonic damage 24

Klippel-Feil Anomaly
Klippel-Feil anomaly is another syndrome that is included in Wildervanck syndrome’s
triad. Short neck and low posterior hairline, two or more cervical vertebrae fused together,
and restriction in head movement are the key clinical characteristics of the Klippel-Feil
anomaly. 25 The fused vertebrae can cause limit the range of the head and neck movement,
the shortened neck can lead to facial asymmetry. There are three subtypes of Klippel-Feil
anomaly, namely KFS type I characterized by single congenital fused cervical; KFS type II
which is characterized by multiple noncontiguous congenitally fused segments (localized
fusion in one or two cervical or thoracic vertebrae with incomplete development of one half
of hemivertebrae or another malformation in cervical vertebrae); KFS type III which
characterized by multiple contiguous congenitally fused segments. 26

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 Mutation in MYO18B, GDF6, GDF3, and MEOX1 genes is believed to be the cause of
KFA. When the mutation happens in GDF6 or GDF3 it is inherited in an autosomal
dominant pattern, and when the mutation happens in MEOX1 and MYO18B gene it is
inherited in an autosomal recessive pattern. 8,27–30

MEOX1
MEOX1 plays an important role in encoding protein homeobox with MEOX2 localized
in mesodermal structures. MEOX1 also has an important role in the expression of
downstream genes like Bapx1, Tbx18, and Uncx where MEOX1 will bind with those genes
promoter to regulate somite development, especially in cervical vertebrae. MEOX1 plays
important, non-redundant roles in maintaining sclerotome polarity and the formation of
craniocervical joints. 8,27
Mutation in MEOX1 is believed to be the cause of KFS type II which is inherited in an
autosomal recessive pattern. 8,27 MEOX1 located in locus 17q21.31. In a case report where
two patients from different families were reported to have a KFS, sequencing of the entire
coding region of MEOX1 where the mutation happened is done in a few pedigrees below
found that there was a frameshift mutation (c.94delG) which resulted in complete loss of
mutant transcript that causes changes in resulting protein (p.Ala32Profs*165) happened in
exon 1 and most likely caused by nonsense-mediated decay mechanism. A premature stop
codon (p.Arg222*) due to a nonsense mutation (c.664C>T) (Fig8-9). 8,27

Fig9. Pedigree of a family affected by KFA caused by a mutation in MEOX1 showed the autosomal-
recessive mode of inheritance 8

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 Fig10. The location of the two mutations of MEOX1 happened in two families. 8

The phenotype shown by the two patients from different families was similar. They
had a fused of cervical vertebrae, short neck and low back hairline and a cervical
segmentation defect. Other physical findings found in one of the patients were a cleft palate
and micrognathia. Numerous relatives who were similarly impacted were present,
according to the family history and pictures. 8

GDF6
GDF6 is a gene that plays important role in instructing producing a protein that is part
of the transforming group beta factor (TGF). GDF6 also controls the development of
bones and cartilages, the development of joints in limbs, cranial, vertebrae, and thorax, and
also the development of the retina and photoreceptor cells. The adult vertebral disc and the
borders of developing carpals, tarsals, and vertebrae both express GDF6. 31

Fig11. Inversion on chromosome 8q and pedigree of family affected. 31

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 Both familial and spontaneous GDF6 gene missense mutations affect KFS patients.
According to a pedigree shown in Fig10, Sequencing revealed a proximal and distal
inversion at nucleotide locations 96544749 and 116078713 on chromosome 8q (inv(8))
(q22.2q23.3). Affected individuals exhibit C2–3 vertebral fusion, different degrees of voice
dysfunction, and some degree of cognitive impairment. 31

Fig12. Family KF2-3 pedigree and GDF6 missense mutation 31

After sequencing the GDF6 gene, a recurrent missense mutation was found. In the
family KF2-03 pedigree's third generation, family with autosomal dominant KF shown by
this pedigree showed a missense mutation in c.746C4A (p.Ala249Glu).
Clinical manifestations in both affected family members show manifestations in the
form of fusion of the C2-C3 vertebrae, with varying vocal deficiencies and piriform
expansion. Nearly 50% of affected family members show clinical manifestations of carpal
fusion and another 50% show other anomalies. 31

MYO18B
MYO18B is a gene that is a part of unconventional class XVIII myosin which has
important roles in regulating transcriptional specific genes in skeletal muscle and cardiac
tissue and also regulating intracellular trafficking. Mutation in MYO18B is reported to be
one of the genes that cause of Klippel-Feil anomaly. 30,32

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 In one case report, it is reported that after sequencing the MYO19B gene, a nonsense
mutation was found which occurred in chr22q12.1 where there is a substitution in
c.6905C>A which causes amino acid changes in the form of a premature stop codon. Based
on the first pedigree, one of the members who was affected was a 14-year-old boy who was
born with small stature, mild dysmorphism, and delayed motor development. Additionally,
he shared traits with a member of the family from the second pedigree, who likewise had a
low posterior hairline, a short neck, micrognathia, and teeth that were misaligned and
varied in shape, including a substantial amount of webbing that was especially noticeable
while he was standing. 28,30,32

Fig13. Pedigree of two families where one member was affected with Klippel-Feil anomaly caused by a
mutation in MYO18B. 28

Fig14. Mutation in MYO18B 28

Conclusion
Wildervanck syndrome is a rare cervico-oculo-acoustic syndrome that is believed to be
associated with X-linked mutations and mostly happens in males than females.

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 Wildervanck syndrome is also believed to be caused by polygenic inheritance. It also has
varied clinical features including microcephaly, hydrocephalus, heart congenital disorder,
and intellectual disability. The oral manifestation is cleft palate. It is following its clinical
features that comprised gene mutations in the CHN1, MAFB, and SALL4 genes result in
Duane Retraction Syndrome.; Klippel-Feil anomaly caused by a mutation in MEOX1,
GDF6, and MYO18B. Nevertheless, more studies should be conducted to find the etiology
of DRS.

References
1. Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, et al. Xq26.3
microdeletion in a male with wildervanck syndrome. Ophthalmic Genetics. 2014
Mar;35(1):18–24.
2. Hernando M, Urbasos M, Amarillo VE, Herrera MT, García-Peces V, Plaza G.
Wildervanck’s syndrome with severe inner ear dysplasia and agenesis of the right internal
carotid artery. International Journal of Pediatric Otorhinolaryngology. 2014;78(4):704–6.
3. Dimitriadis PA, Mackeith S, Archibald C, Hussain S, Mansell N. Findings in a Patient with
Wildervanck Syndrome. Clinical Neuroradiology. 2015 Mar 1;25(1):69–71.
4. Högen T, Chan WM, Riedel E, Brüning R, Chang HH, Engle EC, et al. Wildervanck’s
syndrome and mirror movements: A congenital disorder of axon migration? Journal of
Neurology. 2012 Apr;259(4):761–3.
5. Kumar A, Sahu A, Shetty S, Vijayalakshmi P. Wildervanck syndrome associated with cleft
palate and short stature. Vol. 58, Indian Journal of Ophthalmology. 2010. p. 323–5.
6. Bagaria A, Mathur V, Subraya ML, Vyas A, Singh M. Wildervanck syndrome – a review
of the “triad” and its variations. Swiss Archives of Neurology, Psychiatry and
Psychotherapy. 2021 Jun 27;
7. Meshram SS, Nikose S, Jain S, Taksande A. Wildervanck syndrome with hypoplastic
frontal sinus: A rare case presentation. Indian Journal of Human Genetics. 2014 Apr
1;20(2):189–91.
8. Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS.
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause klippel-feil anomaly.
American Journal of Human Genetics. 2013 Jan 10;92(1):157–61.
9. Anık A, Dursun Ş, Polat A, Anık A, Ünüvar T, Durum Y, et al. An Uncommon Cause of
Duane Syndrome in a Child: Wildervanck Syndrome. The Journal of Pediatric Research.
2016 Apr 18;3(1):53–5.
10. Wettke-Sch~ifer R, Kantner G. X-linked Dominant Inherited Diseases With Lethality in
Hemizygous Males. Vol. 64, Hum Genet. 1983.
11. Rihani FB, Farouk D, Rihani B; Cervico-oculo-acoustic (Wildervanck) syndrome:
clinicoradiological findings.

Wildervanck Syndrome – Lulu Amanda Utami -2106767150

12. Abu-Amero KK, Khan AO, Oystreck DT, Kondkar AA, Bosley TM. The genetics of
nonsyndromic bilateral Duane retraction syndrome. Journal of AAPOS. 2016 Oct
1;20(5):396-400.e2.
13. Zhou TC, Duan WH, Fu XL, Zhu Q, Guo LY, Zhou Y, et al. Identification of a novel
CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane
retraction syndrome. Scientific Reports. 2020 Dec 1;10(1).
14. Kekunnaya R, Negalur M. Duane retraction syndrome: Causes, effects and management
strategies. Vol. 11, Clinical Ophthalmology. Dove Medical Press Ltd; 2017. p. 1917–30.
15. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, et al. Human CHN1
Mutations Hyperactivate a2-Chimaerin and Cause Duane’s Retraction Syndrome [Internet].
Available from: www.sciencemag.org
16. Park JG, Tischfield MA, Nugent AA, Cheng L, di Gioia SA, Chan WM, et al. Loss of
MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular
Muscle Innervation, and Inner-Ear Defects. American Journal of Human Genetics. 2016
Jun 2;98(6):1220–7.
17. Whitman MC, Engle EC. Ocular congenital cranial dysinnervation disorders (CCDDs):
Insights into axon growth and guidance. Vol. 26, Human Molecular Genetics. Oxford
University Press; 2017. p. R37–44.
18. Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, et al. Duane
Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in
SALL4, a New Member of the SAL Family. Vol. 71, Am. J. Hum. Genet. 2002.
19. Rgen Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, et al. Okihiro
syndrome is caused by SALL4 mutations [Internet]. Available from:
https://academic.oup.com/hmg/article/11/23/2979/641263
20. Abu-Amero KK, Kondkar AA, Oystreck DT, Khan AO, Bosley TM. Microdeletions
involving chromosomes 12 and 22 associated with syndromic duane retraction syndrome.
Ophthalmic Genetics. 2014;35(3):162–9.
21. Mansour S, Baple E, Hall CM. A clinical review and introduction of the diagnostic
algorithm for thalidomide embryopathy (DATE). Vol. 44, Journal of Hand Surgery:
European Volume. SAGE Publications Ltd; 2019. p. 96–108.
22. Donovan KA, An J, Nowak RP, Yuan JC, Fink EC, Berry BC, et al. Thalidomide promotes
degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
Available from: https://doi.org/10.7554/eLife.38430.001
23. Shortt J, Hsu AK, Johnstone RW. Thalidomide-analogue biology: Immunological,
molecular and epigenetic targets in cancer therapy. Vol. 32, Oncogene. 2013. p. 4191–202.
24. Vargesson N. The teratogenic effects of thalidomide on limbs. Vol. 44, Journal of Hand
Surgery: European Volume. SAGE Publications Ltd; 2019. p. 88–95.
25. Uloko M, Bearrick E, Bodie J. Azoospermia in a Male with Klippel–Feil Anomaly.
Urology Case Reports. 2017 Jul 1;13:51–2.
26. Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical,
genetic and environmental factors associated with congenital vertebral malformations.
Molecular Syndromology. 2013 Feb;4(1–2):94–105.
27. Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, et al. Mutation in
MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genetics. 2013 Sep
28;14.

Wildervanck Syndrome – Lulu Amanda Utami -2106767150

28. Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, et al. A novel
syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null
mutation in MYO18B. Journal of Medical Genetics. 2015;52(6):400–4.
29. Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, et al.
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Human Molecular Genetics. 2009 Nov 9;19(2):287–98.
30. Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, et al. Expanding
the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity
with medulloblastoma. European Journal of Medical Genetics. 2019 Aug 1;62(8).
31. Tassabehji M, Zhi MF, Hilton EN, McGaughran J, Zhao Z, de Bock CE, et al. Mutations in
GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human
Mutation. 2008 Aug;29(8):1017–27.
32. Li Z, Zhao S, Cai S, Zhang Y, Wang L, Niu Y, et al. The mutational burden and oligogenic
inheritance in klippel-feil syndrome. BMC Musculoskeletal Disorders. 2020 Apr 11;21(1).

Wildervanck Syndrome – Lulu Amanda Utami -2106767150