Case Report
DOI: 10.14235/bas.galenos.2019.3152
Bezmialem Science 2020;8(1):89-91
Oro-dental and Radiographic Findings of Weyers Acrofacial
Dysostosis: Report of a Rare Case
Weyers Akrofasiyal Disostozis’in Ağız-diş ve Radyografik Bulguları: Nadir Bir
Olgu Sunumu
Esra ÖZ,
Zuhal KIRZIOĞLU
Süleyman Demirel University Faculty of Dentistry, Department of Pedodontics, Isparta, Turkey
ABSTRACT
ÖZ
Weyers acrofacial dysostosis is a rare type of ectodermal dysplasia
syndrome characterized by mild short stature, postaxial polydactyly,
dystrophic nails, and dental anomalies (hypodontia, microdontia,
taurodontism). In this case report, we present the oral and
radiographic findings of a 7-year-old girl consistent with the
diagnosis of Weyers acrofacial dysostosis. Through this detailed
discussion, we aim to contribute to the literature.
Hafif boy kısalığı, postaksiyal polidaktili, distrofik tırnaklar
ve dental anomaliler (hipodonti, mikrodonti, taurodontizm)
ile karakterize otozomal dominant bir bozukluk olan Weyers
akrofasiyal disostozis, ektodermal displazi sendromunun nadir
görülen bir tipidir. Bu olgu raporunda, 7 yaşındaki kız çocuğunun
Weyers akrofasiyal disostozis tanısı ile örtüşen oral ve radyografik
bulguları sunulmuştur. Bu ayrıntılı tartışma sayesinde literatüre
katkıda bulunmak amaçlanmıştır.
Keywords: Oral findings, polydactyly, syndrome, Weyers acrofacial
dysostosis
Introduction
Ectodermal dysplasia is a well-known hereditary disorder
associated with the abnormal development of structures such as
teeth, nails, hair, nerve cells, and sweat glands (1). Weyers acrofacial
dysostosis (WAD) is a rare type of ectodermal dysplasia syndrome
characterized by mild short stature, postaxial polydactyly,
dystrophic nails, and dental anomalies (2). It has been reported to
be caused by heterozygous mutation in the EVC2 and EVC genes
located on chromosome 4p16.2 (3).
Many phenotypic features of WAD are similar to Ellis-van
Creveld (EVC) syndrome, an autosomal recessive disorder.
However, WAD is a milder condition compared to EVC and
does not include features such as short ribs, thoracic dysplasia,
Anahtar Sözcükler: Ağız bulguları, polidaktili, sendrom, Weyers
akrofasiyal disostozis
and congenital heart disease, which are commonly observed in
patients with EVC (4).
In this case report, we present the oral and radiographic findings
of a 7-year-old girl consistent with the diagnosis of WAD. In the
limited number of accessible reports of WAD, oro-dental findings
have rarely been encountered. Through this detailed discussion,
we aim to contribute to the existing literature.
Case Report
A 7-year-old girl was brought to our clinic by her parents for
a dental examination. Her history revealed no consanguinity
between the mother, father and the first of the two daughters of the
family. The patient showed normal growth with a height of 122
Address for Correspondence: Esra ÖZ, Süleyman Demirel University Faculty of Dentistry, Department of
Pedodontics, Isparta, Turkey
E-mail: esrakaraagac@sdu.edu.tr ORCID ID: orcid.org/0000-0002-5160-7211
Received: 05.03.2019
Accepted: 21.05.2019
Cite this article as: Öz E, Kırzıoğlu Z. Oro-dental and Radiographic Findings of Weyers Acrofacial
Dysostosis: Report of a Rare Case. Bezmialem Science 2020;8(1):89-91.
©Copyright 2019 by the Bezmiâlem Vakıf University
Bezmiâlem Science published by Galenos Publishing House.
89
Öz and Kırzıoğlu. Weyers Acrofacial Dysostosis: A Rare Case
cm, a weight of 26 kg and no mental retardation. It was observed
that the patient had a straight face profile with a marked lower
jaw sulcus and dystrophic changes in the hands and toenails. The
patient’s parent stated that she had one more fingers on both
hands and feet at birth, and underwent surgical correction at 9
months of age. Upon questioning, we learned that there was a
family history of polydactyly at birth in the hands and feet of the
patient’s mother, grandfather, as well as her 3-year-old sister, who
underwent surgery at 8 months of age.
During the intraoral examination, we observed multiple wide
labial frenula and a unilateral posterior crossbite. The saliva flow
rate was measured to be 1 mL/min with a pH value of 6. The
patient had microdontia with cone-shaped primary incisors and
primary molars with atypical cusps. The newly erupting upper
incisors, however, were abnormally large with talon cusps. The
patient had wide diastemas between the teeth as well as gingival
recession in the vestibule in association with the primary
canines. Radiographic evaluation showed congenitally missing
teeth (permanent mandibular right and left central, right lateral),
Figure 1. Facial appearance a) Frontal view, b)lateral profile,
c, d) Bilateral postaxial polydactyly were removed at birth
by surgical operations on both hands and feet, only scars
(red arrows) were seen, e, f) Dystrophic hands and toenails
Figure 2. a, b) Intra-oral examination of the patient and (c,
d) her sibling
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taurodontism (permanent mandibular and maxillary first
molars), and changes in the direction of tooth germs (permanent
mandibular right and left second premolars).
The patient’s 3-year-old sibling had an open bite due to the
continued use of a pacifier. She also displayed microdontia with
cone-shaped primary incisors and primary molars with atypical
cusps, large diastemas between the teeth, similar to the patient.
Clinical and radiographic examination of the father showed no
oral findings similar to the daughters. Although the patient’s
mother was found to have a history of polydactyly, she refused
our invitation to visit the clinic for clinical examination and did
not consent to genetic diagnostic testing.
Dental treatment planning was done and the patients were
provided with all the necessary information. The importance of
oral care and regular check-ups for maintaining oral health was
explained to the patient.
Discussion
Many disorders that require special attention in childhood
are described in the literature. One such syndrome is WAD, a
rare type of ectodermal dysplasia characterized by polydactyly,
dystrophic nails, and dental anomalies. Patients with WAD have
been reported to have a normal facial appearance, short stature,
dysplastic finger and toenails separated by thick vertical lines,
and the presence of extra digits in the feet and hands (2,4-7).
Although there was no growth retardation in our patient, the
other findings were observed. Family history revealed polydactyly
at birth in the hands and feet of the patient’s mother, grandfather,
and sister.
WAD is usually characterized by dental findings including
multiple labial hyperplastic frenula, hypodontia, microdontia,
taurodontism, conical teeth, and enamel hypoplasia (2).
The patient displayed all these dental findings except enamel
hypoplasia, suggesting a diagnosis of WAD.
The differential diagnosis for WAD includes EVC, Witkop and
Orofacial Digital syndromes.
It has previously been reported that cardiac malformations
occur in approximately 50-60% of patients with EVC with
Figure 3. The panoramic radiograph of the patient and
periapical film showing the talon cusps
Bezmialem Science 2020;8(1):89-91
characteristic features of short ribs, thoracic dysplasia, and
acromesomelic dwarfism (4). Our patient did not show these
characteristic features and there was also no cardiac disturbance.
The patient also showed polydactyly, a characteristic of WAD
patients. It has previously been reported that polydactyly occurs
commonly in the hands of EVC patients but occurs in the feet
of only 10% of patients with EVC (4). Oral findings such as
multiple hyperplastic frenula, diastemas, taurodontism, and
hypodontia (mandibular and maxillary anterior region) observed
in our patient are also observed in patients with EVC (8).
However, natal and supernumerary teeth are seen in 25-30% of
patients with EVC (8) and were not observed in our patient.
Peer-review: Externally peer-reviewed.
Although hypodontia and nail dysplasia, which are known to
be characteristic features of Witkop syndrome (9) are seen
in our patient, the presence of supernumerary digits helps to
differentiate WAD from Witkop syndrome.
References
Orofacial digital syndrome (OFDS1) is a developmental genetic
disorder frequently seen in girls with X dependent dominant
transition and characterized by malformation of the oral cavity,
face, and fingers (10). While our patient had multiple hyperplastic
frenula, a finding commonly seen in OFDS1 patients, she did not
show other features characteristic of OFDS1, including the lack
of development, hypoplasia of the nasal limbs, mental disability,
and polycystic kidney disease. Another distinguishing feature
was the presence of dystrophic nails, a finding not observed in
patients with OFDS1.
Due to the presence of dental anomalies (hypodontia,
taurodontism, macrodont incisors) in the patient, it was
explained that the protective and preventive treatments (fluoride
and fissure sealant applications, dietary control), oral hygiene
procedures, regular dental follow-up were important and
necessary dental treatments were performed. It has been stated
that there should be periodic follow-up of the teeth due to the
changes in the direction of tooth germs. Since there were no
parental and patient complaints due to the size and appearance
of the anterior teeth, the model analysis was performed, and then
necessary tooth interproximal strippings were done.
Although genetic analysis would provide a definitive diagnosis
of WAD, the patient’s mother did not give consent for genetic
testing. The diagnosis of WAD in our patient was supported by
family history as well as oral and radiographic findings.
Ethics
Informed Consent: Consent was obtained from the parents of
the patient.
Authorship Contributions
Concept: Z.K., E.Ö., Design: Z.K., E.Ö., Data Collection or
Processing: Z.K., E.Ö., Analysis or Interpretation: Z.K., E.Ö.,
Literature Search: E.Ö., Writing: Z.K., E.Ö.
Conflict of Interest: No conflict of interest was declared by the
authors.
Financial Disclosure: The authors declared that this study
received no financial support.
1. Itthagarun A, King NM. Ectodermal dysplasia: A review and case
report. Quintessance Int 1997;28:595-602.
2. Weyers H. A correlated abnormality of the mandible and extremities
(dysostosis acrofacialis). Fortschr Geb Rontgenstr 1952;77:562-7.
3. Howard TD, Guttmacher AE, Mckinnon W, Sharma M, Mckusick
VA, Jabs EW. Autosomal dominant postaxial polydactyly, nail
dystrophy, and dental abnormalities map to chromosome 4p16, in
the region containing the Ellis-van Creveld syndrome locus. Am J
Hum Genet 1997;61:1405-12.
4. Shetty DC, Singh HP, Kumar P, Verma C. Report of Two Siblings with
Overlapping Features of Ellis-van Creveld and Weyers Acrodental
Dysostosis. J Clin Imaging Sci 2012;2:18.
5. Roubicek M, Spranger J. Weyers acrodental dysostosis in a family.
Clin Genet 1984;26:587-90.
6. Ruiz-Perez VL, Goodship JA. Ellis–van Creveld syndrome and
Weyers acrodental dysostosis are caused by cilia-mediated diminished
response to hedgehog ligands. Am J Med Genet Part C Semin Med
Genet 2009;151:341-51.
7. Goswami S. Weyers acrofacial dysostosis (Curry-Hall Syndrome):
Report of a rare case. Arch Med Health Sci 2018;6:143-6.
8. Tuna EB, Koruyucu M, Kürklü E, Çifter M, Gençay K, Seymen
F, et al. Oral and craniofacial manifestations of Ellis-van Creveld
syndrome: Case series. J Craniomaxillofac Surg 2016;44:919-24.
9. Hudson CD, Witkop CJ. Autosomal dominant hypodontia with nail
dysgenesis. Report of twenty-nine cases in six families. Oral Surg Oral
Med Oral Pathol 1975;39:409-23.
10. 10.Toriello HV, Franco B. Oral-facial-digital syndrome Type I. In:
Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews.
Seattle: University of Washington; 1993; July 24,2002 (updated
March 9, 2007). Available at: http://www.ncbi.nlm.nih.gov/ books/
NBK1188/.
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