CliniCal Case
anna Paradowska-stolarz¹, ewa szeląg², Janina szeląg¹
VACTERL Association – a Case Report
Zespół VACTERL – opis przypadku
¹ Department of Dentofacial anomalies, Department of Orthodontics and Dentofacial Orthopedics, Wroclaw Medical University, Poland
² student’s scientific association of Dentofacial anomalies, Wroclaw Medical University, Poland
Abstract
The name VaCTeRl association comes from the first letters of the most common anomalies in individuals affect-ed with this deformity: V – vertebral anomalies, a – anal atresia, C – cardiovascular defects, T – tracheoesophageal fistula, e – esophageal atresia, R – renal and/or radial anomalies, l – limb anomalies. The prevalence is assumed at 1 : 10,000–1 : 40,000 live births. The etiology remains unclear. an 8-year-old patient with VaCTeRl association and related anomalies was directed to the Department of Dentofacial anomalies by a speech therapist. Various congenital problems were reported, among them tracheoesophageal fistula, anal atresia, heart defect, ureteral reflex and limb hypoplasia. several surgical procedures were performed to raise his standards of living. intraorally, mixed dentition with distal occlusion and submucous cleft of palate and uvula were observed. The panoramic X-ray revealed a lack of three permanent tooth buds: the upper left lateral incisor and lower second premolars. The upper right lateral incisor was microdontic. The orthodontic treatment required two-stage therapy. in the first stage, a functional removable appliance was planned. in the second (the permanent dentition), a fixed appliance will be required (Dent. Med. Probl. 2012, 49, 1, 121–124).
Key words: VaCTeRl association, cleft palate.
Streszczenie
Częstość występowania VaCTeRl (V – anomalie kręgowe, a – atrezja odbytu, C – wady układu sercowo-naczy-niowego, T – przetoka tchawiczo-przełykowa, e – atrezja przełyku, R – anomalie budowy nerek i/lub radiologiczne, l – nieprawidłowości w budowie kończyn) szacuje się na 1 : 10 000–1 : 40 000 żywych urodzeń. etiologia nie jest jednoznacznie określona. Ośmioletni pacjent z zespołem VaCTeRl i związanymi z nią nieprawidłowościami został skierowany do Poradni Wad Rozwojowych Twarzy przez logopedę. Udokumentowano u niego wiele wad wrodzo-nych, m.in.: przetokę tchawiczo-przełykową, zarośnięcie odbytu, wadę serca, zarzucanie nerkowe, niedorozwój koń-czyn. U pacjenta wykonano wiele zabiegów chirurgicznych mających na celu jego usprawnienie i poprawę jakości życia. Wewnątrzustnie stwierdzono uzębienie mieszane i wadę dotylną oraz rozszczep podśluzówkowy podniebienia i języczka. Pantomogram wykazał brak trzech zawiązków zębów stałych: lewego górnego zęba siecznego bocznego oraz drugich zębów przedtrzonowych dolnych. Prawy ząb sieczny górny boczny jest mikrodontyczny. leczenie orto-dontyczne wymaga dwuetapowego leczenia: na pierwszym etapie wykonano aparat ruchomy – czynnościowy, na drugim (uzębienia stałego) – planuje się leczenie aparatami stałymi (Dent. Med. Probl. 2012, 49, 1, 121–124).
Słowa kluczowe: asocjacja VaCTeRl, rozszczep podniebienia.
Dent. Med. Probl. 2012, 49, 1, 121–124
issn 1644-387X © Copyright by Wroclaw Medical University and Polish Dental society
The term VaCTeRl association is taken from the first letters of parts of the body the defects af-fect. The acronym stands for: V – vertebral anom-alies, a – anal atresia, C – cardiovascular de-fects, T – tracheoesophageal fistula, e – esopha-geal atresia, R – renal and/or radial anomalies and l – limb anomalies [1]. it can be diagnosed if at least three of these anomalies are observed in the
patient. We can divide this association into two groups: “associated” when other than the typical symptoms are present and “isolated” when there are no additional symptoms [2]. VaCTeRl asso-ciation is also known as VaTeR, VaCTel, aR-TiCle, TReaCle and leaTHeR association [3]. The syndrome is assigned as Q87.2 in the iCD-10 classification. The real prevalence is unknown, but
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it is assumed that it occurs in 1 : 10,000–1 : 40,000 live births. some studies show a higher prevalence of association in males, which suggests that it may have an X-linked inheritance pattern [acc. 4]. al-though the presence of certain anomalies seemed to be obvious, it later turned out that not all of the anomalies are present in a fetus with VaCTeRl association [acc. 4].
VaCTeRl association was first described in 1972 and its real etiology is still not clearly known. Due to lack of evidence of one cause resulting in VaCTeRl association, the presence of the symp-toms cannot be called a syndrome [after 4, 5]. Fa-milial occurrence may suggest a genetic factor. The higher prevalence in first-degree relatives may rate up to 10% [6, 7]. The most common anoma-lies are vertebral and rib anomaanoma-lies (60–80%), anal atresia (55–90%) and cardiac malformations (40– –80%) [acc. 4]. VaCTeRl association can be as-sociated with CHaRGe syndrome, chromosome 13 or 18 trisomies, Down syndrome and Mulleri-an duct aplasia [3, 5, 8].
in some cases prenatal and postnatal growth deficiency are also observed [1]. Rarely larynge-al stenosis, ear anomlarynge-alies, defects of lower limbs, rib anomalies, large fontanels, tethered cord and defects of genitalia, diaphragmatic hernia, hepat-ic-pulmonary fusion, duodenal atresia, pulmo-nary agenesia and other anomalies are observed [1, 9, 10]. The radial defects therefore are often ex-plained as a visualization of cardiovascular prob-lems, e.g. the absence of a radial artery [3]. Due to serious defects (such as pulmonary atresia), an in-fant with VaCTeRl association could die in the first days of its life, although the development of medical procedures (including surgeries) seems to prolong the lifetime of the infant [3, 4].
Diagnosis of VaCTeRl association is based on clinical evaluation and the presence of the out-lined malformations. some require at least three of the “basic” symptoms to be present [2, 4]. some authors require additional diagnostics, such as signs of mitochondrial dysfunction, mutations in
HOXD13 or ZIC3 genes [acc. 4]. The differential
diagnosis is fairly large and is based on the assump-tion that the presence of other symptoms suggests syndromes other than VaCTeRl association. The differential diagnosis can include (among the others) Baller-Gerold syndrome, CHaRGe syn-drome, Curriano synsyn-drome, deletion of chromo-some 22q11.2, Feingold syndrome, MURCs asso-ciation, Pallister-Hall syndrome and others [4].
What is more, VaCTeRl association in one twin can cause a problem in the blood circulation of the second twin and lead to its death in grav-id, especially if twin reversed arterial perfusion (TRaP) sequence is observed [12].
Fig. 1. Patient with VaCTeRl association – cleft of the
uvula
Ryc. 1. Pacjent z asocjacją VaCTeRl – rozszczep
języczka
Fig. 2. Deformed upper limb Ryc. 2. Deformacja górnej kończyny
Fig. 3. Deformed upper limb Ryc. 3. Deformacja kończyny górnej
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Case Report
an 8-year-old male patient, born naturally in the 32nd week of pregnancy, came to the
Depart-ment of Dentofacial anomalies of Wroclaw Med-ical University. according to the mother’s knowl-edge, no congenital defects were present in the family before. During the pregnancy, in the 2nd
semester the mother felt ill and took medication (phenoterole). The boy suffered from numerous congenital defects that were genetically associat-ed (46XY t(14,7)).
The medical history showed various congen-ital problems: tracheoesophageal fistula and anal atresia were operated on the second day of life. a heart defect (VsD) was diagnosed and operat-ed on in the 8th month of life. Ureteral reflex
re-quired kidney surgery in the 6th year of life. The
patient’s limbs were also congenitally changed: bi-lateral forearm bone hypoplasia with a missing thumb in one hand and a hypoplastic thumb in the other were observed. also congenital defor-mity of the right foot and ankle was noticed. as a result, several reconstructive surgical procedures were performed. no other bone defects have been diagnosed so far.
The patient was directed to the Department of Dentofacial anomalies of Wroclaw Medical Uni-versity by a speech therapist. Besides the typical VaCTeRl association deformities, a unilateral sub-mucous cleft of the palate and uvula were observed. Due to the intense care of the speech therapist, the patient’s speech is fully understandable and the na-sal speech has been almost totally eliminated.
an intraoral examination showed mixed den-tition, typical for this age (erupted first permanent molars, all lower incisors and upper central inci-sors). From the medical history – retarded teeth-ing in deciduous dentition was defined (first de-ciduous teeth in the 12th month of age).
Orthop-antomogram revealed a lack of three permanent tooth buds (the left upper lateral incisor and lower second premolars). The upper right lateral incisor was microdontic.
The treatment plan required a removable, func-tional appliance in the first phase (treatment of dist-occlusion). a Klammt eOa was planned. Beside this, the upper arch needed widening. in the second phase, when the eruption of all permanent teeth is complet-ed, a fixed appliance therapy will be planned.
Discussion
VaCTeRl association can be diagnosed if at least three of the following malformations are ob-served: vertebral anomalies, anal atresia,
cardio-vascular defects, tracheoesophageal fistula, esoph-ageal atresia, renal and/or radial anomalies and/ /or limb anomalies [1]. in our patient, five of these features were observed: tracheoesophageal fistu-la, anal atresia, renal anomalies (ureteral reflex), cardiovascular defect (VsD) and limb anomalies (of both upper and lower limbs). Most of the de-formities were operated on in the first year of life. aside from this, a cleft of palate and uvula were al-so observed. in VaCTeRl asal-sociation, clefts of the respiratory system occur quite often [12]. Clefts
Fig. 4–6. Distal occlusion in patient with VaCTeRl
association
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of lip, alveolar bone and/or palate are rarely ob-served. Clefts associated with VaCTeRl associ-ation are usually related to the micro-deletion of chromosome 22q11 [13, 14]. any rare congenital disease requires a specific type of treatment, indi-vidualized for the patient. in this particular case, multidisciplinary treatment has been a great suc-cess so far.
Hypodontia of three permanent teeth (an up-per lateral incisor and two lower premolars) may be the result of the cleft. it has been reported that clefts predominate in hypodontia [acc. 15].
The patient requires orthodontic treatment. in the mixed dentition phase, a functional appliance is required. When permanent teeth are erupted, treatment with a fixed appliance will be planned.
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Address for correspondence:
anna Paradowska-stolarz
Department of Orthodontics and Dentofacial Orthopedics Wroclaw Medical University
Krakowska 26 50-425 Wroclaw Poland Tel./fax: +48 71 784 02 99 e-mail: aparad@vp.pl Received: 10.11.2011 Revised: 9.12.2011 accepted: 21.12.2011
Praca wpłynęła do Redakcji: 10.11.2011 r. Po recenzji: 9.12.2011 r.
