Since that original paper, there have been further reports describing this triad. International journal of pediatric otorhinolaryngology. Associated anomalies included short stature, microcephaly, mental retardation. Deafness and the klippelfeil syndrome volume 83 issue 2 k. A syndrome characterized by the combination of congenital deafness, duane syndrome eye retraction, and fusion of the neck vertebrae klippelfeil anomaly. Affected individuals with these findings must be differentiated from other malformation syndromes, including townesbrocks syndrome, okihiro syndrome. This combination of abnormalities does not fit into holt.
Feil syndrome, joubert syndrome, moebius syndrome, and congenital hemiplegia,25 and individual patients with seckel syndrome and wildervanck syndrome have also been reported with this condition. The crossing of nerve tracts from one hemisphere in the brain to the contralateral sense organ or limb is a common pattern throughout the cns, which occurs at specialised bridging points called decussations or commissures. Wildervanck syndrome is characterized by the triad of cervical vertebral fusion klippelfeil anomaly, see this term, bilateral abducens palsy. Wildervanck syndrome cervicooculoacoustic syndrome comprises. Four out of ten members of the family affected with preauricular pits, malformed auricles and conductive type of hearing loss, are reported in this study because of the rarity of incidence. Klippelfeil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. Apr 01, 2014 read wildervanck s syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery, international journal of pediatric otorhinolaryngology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. The patient underwent surgical occipital decompression by preforming suboccipital craniectomy and c1 posterior laminectomy to relieve the cerebellar tonsillar. Taylan sekeroglu and others published wildervanck syndrome.
Since that time, about 200 similar cases have been reported as klippelfeils syndrome kf. Instructions and definitions the north carolina state deafblind project is federally required to conduct an annual child count of children and youth who are deafblind on december 1st of each year. If you have problems viewing pdf files, download the latest version of adobe. Kippelfeil syndrome associated with abducens paralysis, bulbar retraction and deafmutism nederlandsch tijdschrift voor geneeskunde, amsterdam, 1952, 96. Cranial asymmetry and cognitive retardation might additionally take place. The okihiro syndrome consists of duane anomaly, radial ray defects, and deafness. A 15yearold female was found to have the typical features of wildervanck s syndrome, including klippelfeil anomaly, abducens paralysis, retraction of the bulbi, and deafness. Both malformation syndromes are dominantly inherited. This patient with severe ws and additional anomalies needed a comprehensive evaluation in the search for additional accom.
In most cases, wildervanck syndrome occurs randomly for unknown reasons in a family with no prior. In addition, she had bilateral lens subluxation and facial paralysis, neither of which have been reported in patients with wildervancks syndrome. The cervicooculoacoustic syndrome was described in 1960 by wildervanck 2 and consists of perceptive deafness, klippelfeil syndrome, and. Wildervanck syndrome is an extremely rare genetic condition seen mostly in females and is characterized by skeletal deformity which is known by the name of klippelfeil syndrome, ocular abnormalities, and congenital hearing impairment. Wildervanck syndrome or cervicooculoacoustic syndrome comprises a triad of duane syndrome. Mim314600 a disorder characterized by a congenitally short neck with fused cervical vertebrae klippelfeil anomaly, sixth cranial nerve paralysis with retraction of the eye globe and narrowing of the palpebral fissure on adduction duane syndrome, and sensorineural deafness.
Ct of severe inner ear anomalies, including aplasia, in a case of wildervanck syndrome. This syndrome is seen infrequently in the general population and may not be recognized since the external appearance of the ears may be normal, and the. Know the causes, symptoms, treatment of wildervanck syndrome. Deafness and the klippelfeil syndrome cambridge core. Please complete the information on this form and return it to tanni anthony at the above address. Sall4 pathogenic variants have not been detected in some persons who meet the diagnostic criteria for wildervanck syndrome j kohlhase. The syndrome is probably due to polygenic inheritance with limitation to females and lethality for males. Thirty five were found to have abnormalities on audiological. Wildervancks syndrome with bilateral subluxation of lens and. Ct of severe inner ear anomalies, including aplasia, in a. Herein we report on an adolescent patient with gorlin syndrome and coexisting congenital. Severe scoliosis, torticollis and short stature in a woman. In 1952, wildervanck described the first case of what he styled the cervicooculoacoustic coa syndrome. Symptoms of the following disorders may be similar to those of wildervanck syndrome.
Brainstem hypoplasia in the wildervanck cervicooculo. May 25, 2007 duane syndrome is a strabismus syndrome characterized by congenital nonprogressive horizontal ophthalmoplegia inability to move the eyes primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Klippelfeil anomaly fused neck vertebrae with limitation of head movement often associated with spina bifida cervicalis. Radiologically, there is a failure of cervical segmentation. Association of congenital heart disease, blepharoptosis. We report on a case of vertebral artery dissection with posterior circulation involvement in a child with klippelfeil syndrome after a hard physicaltraining lesson. We report two families with an overlapping phenotype, suggesting a common aetiology. Disease bioinformatics wildervancks syndrome is disorder that is characterized by the fusion of bones in the spine, congenital hearing problems, and vision abnormalities. Klippelfeil anomaly, abducens nerve palsy, and congenital. In 1952, wildervanck 1 described a cervicooculoacoustic syndrome consisting of klippelfeil deformity, abducens palsy with globe retraction, and congenital hearing loss. Occasionally, an epibulbar dermoid is seen, first documented by wildervanck et al. Wildervanck or cervicooculoacoustic syndrome and mri. We have been advised that the release of information for this registry does not violate the family education.
Case report cervicooculoacoustic wildervanck syndrome. By wildervanck dr charles wildervanck march 1, 2017 insulin resistance and type ii diabetes mellitus obesity and type ii diabetes have reached epidemic proportions, especially in the usa. Deafblind census instructions, definitions and reporting. This syndrome occurs more commonly in girls than boys. Wildervancks syndrome with severe inner ear dysplasia and. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Klippelfeil syndrome congenital ossicular anomalies. Evolutionary and teleological arguments suggest that midline crossing emerged in response to distinct physiological and anatomical constraints. Wildervanck syndrome nord national organization for rare.
The wildervanck syndrome consists of congenital perceptive deafness, klippelfeil anomaly, and duane anomaly. May 04, 2016 wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. Feil anomaly kf, sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion. Methods the osteological material of 93 dried second cervical vertebrae of both sexes were examined in order to identify the likely presence of. Here are links to possibly useful sources of information about wildervanck syndrome. Wildervanck syndrome, short stature, duane retraction syndrome, klippel feil anomaly, deafness, torticollis, severe scoliosis. A 15yearold female was found to have the typical features of wildervancks syndrome, including klippelfeil anomaly, abducens paralysis, retraction of the bulbi, and deafness. Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. Duane retraction syndrome drs is a rare congenital strabismus condition with genetic heterogeneity. It is characterized by klippelfeil anomaly in which the bones of the neck fuse together, duane syndrome an eye movement disorder, and hearing loss.
Association of congenital heart disease, blepharoptosis, and. This comprises klippel feils kf anomaly congenitally fused cervical vertebrae, congenital sensorineural deafness and duanes retraction syndrome deficient abduction with retraction on adduction. Duane syndrome is an eye movement disorder present at birth characterized by horizontal eye movement limitation a limited ability to move the eye inward toward the nose adduction, outward toward the ear abduction, or in both directions. With combined vision and hearing loss deafblindness colorado department of education exceptional student services unit 1560 broadway, suite 1175, denver, colorado 80202. Vertebral artery dissection in a patient with wildervanck. Wildervanck syndrome the external appearance and radiologic. The association between vertebral artery dissection and klippelfeil syndrome is also very rare. Duanes syndrome ballard free download as powerpoint presentation. Severe scoliosis, torticollis and short stature 211 conclusions so far, it remains a matter of controversy whether wv is a discrete entity, or if it is just one part of the spectrum of congenital spinal deformities. Een geval vanaandoening val klippelfeil, gecombineerd med abducensparalyse, retractio bulbi en doofstomheid. Wildervanck syndrome or cervicooculoacoustic syndrome comprises a triad of. It is present from birth in approximately 1% of all female deaf mutes. An uncommon cause of duane syndrome find, read and cite all the research you need on researchgate. Vertebral artery dissection as a cause of stroke is rarely reported in children.
Subsequent reports have confirmed that the wildervanck syndrome occurs sporadically, preferentially affects girls, and may be associated with paralysis of other lower cranial nerves. The wildervanck or cervicooculoacoustic syndrome consists of the characteristic triad of. The wildervanck syndrome affects almost exclusively women. Other spinal deformities spina bifida occulta, sprengel deformity, hemivertebrae, fusion of the ribs, absent ribs, kyphosis, scoliosis, and. The cervicooculoacoustic syndrome was described in 1960 by wildervanck 2 and consists of perceptive deafness, klippelfeil syndrome, and duanes syndrome.
Wildervanck syndrome, also known as cervicoocularacoustic dysplasia, consists of the triad of klippelfeil syndrome. Duanes syndrome ballard neurology medical specialties. The trip database provides clinical publications about. The vision abnormalities include the decreased horizontal motion in the eyes and the ability to move eyes backward in the eye cavity. Herein we report on an adolescent patient with gorlin syndrome and. Hearing loss in the cervicooculoacoustic wildervanck syndrome. Clinicoradiological findings article pdf available in bmj case reports 20apr23 1 april 20 with 289 reads how we measure reads.
Wildervanck syndrome, also known as cervicoocularacoustic dysplasia, consists of the triad of. Wildervanck syndrome is limited, or almost completely limited, to females. For language access assistance, contact the ncats public information officer. Wildervanck syndrome or cervicooculoacoustic syndrome is a recognizable malformation syndrome with major clinical features including klippelfeil sequence, duane retraction syndrome, hypoplastic thumbs, and sensorineural hearing loss. The association of congenital cervical synostosis typical of the klippelfeil deformity with eyeball retraction, abducens nerve palsy, and hearing loss first described by wildervanck in 1952 is. Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. Jan 18, 2012 duane retraction syndrome drs is a rare congenital strabismus condition with genetic heterogeneity.
In most cases, wildervanck syndrome occurs randomly for unknown reasons in a. This article reports a case of a female five years old child with rare syndrome of wilderwanck wich consists in a association of klippelfeil syndrome and duane syndrome and auditive hypoacusia. Wildervancks syndrome with bilateral subluxation of lens. Wildervanck syndrome comprises the clinical triad of klippelfeil deformity fusion of. Klippelfeil anomaly fused cervical vertebrae congenital hearing loss. Ocular examination reveals alterations of cervical column, bilateral. Introduction the possible appearance of congenital fusion of the second cervical vertebra with adjacent cervical vertebrae, along with its epidemiology, embryological development, and clinical manifestations, was the aim of the current study. Wildervanck syndrome genetic and rare diseases information. Goldenhars syndrome jama ophthalmology jama network. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. Again, there are peculiar combinations with other instances of suspected axonal malrouting kodsi, 2000. G keeney, s s gebarski and j a brunberg american journal of neuroradiology january 1992, 1 201202. Wildervancks syndrome is a condition that occurs almost entirely in.
The audiological assessment of 44 patients with kfs is reported. Cureus congenital synostosis of cervical vertebrae. In addition, she had bilateral lens subluxation and facial paralysis, neither of which have been reported in patients with wildervanck s syndrome. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for wildervanck syndrome. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. We describe a girl presented with facial asymmetry and oral mucosal cleft and with further investigations other anomalies were found including hearing loss, duane syndrome, klippelfeil anomaly, chiari malformation and accessory bone mass in mandibular ramus leading to the clinical diagnosis of cervicooculoacoustic wildervanck syndrome coas. Wildervanck syndrome is a combination of congenital anomalies characterized by deafness, klippelfeil deformity, and an unusual ocular motility disturbance called duane retraction syndrome.
Wildervancks syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery. G keeney, s s gebarski and j a brunberg american journal. We found 12 patients with congenital heart disease of unknown etiology complicated with blepharoptosis during a period from sept. Duane syndrome is a strabismus syndrome characterized by congenital nonprogressive horizontal ophthalmoplegia inability to move the eyes primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. Read wildervancks syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery, international journal of pediatric otorhinolaryngology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at. Audiological abnormalities in the klippelfeil syndrome.
Apr 15, 2017 goldenhar gorlin syndrome is also known as facioauriculovertebral dysplasia, unilateral craniofacial microsomia, first arch syndrome, first and second branchial arch syndrome, unilateral mandibulo facial dysostosis, unilateral intrauterine facial necrosis, auriculobranchiogenic dysplasia, facioauriculovertebral malformation complex. Ct of severe inner ear anomalies, including aplasia, in. Drs associated with intellectual disability or developmental delay is observed in several. Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi. Comparisons may be useful for a differential diagnosis. Wildervanck s syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery. If you have problems viewing pdf files, download the latest version of adobe reader. Wildervanck s syndrome is a condition that occurs almost entirely in females. Wildervanck syndrome nord national organization for.
There are similarities with the acrorenalocular syndrome in which there are radial ray and renal abnormalities and colobomas which mostly involve the optic nerve. In 1912 klippel and feil described a syndrome characterised primarily by the absence of the cervical spine which was made up merely of a skeletal mass of fused vertebrae. The temporal bone in the preauricular pits, cervical fistula, hearing loss syndrome. A 22yearold woman with mixed hearing loss, klippelfeil anomalad fused cervical vertebrae, and bilateral abducens palsy with retracted bulb duanes. Affected individuals with these findings must be differentiated from other malformation syndromes, including townesbrocks syndrome. At birth, affected infants have restricted ability to move the affected eyes outward abduction andor inward adduction. This paper presents a rare case of goldenhar syndrome in a 6 year old boy reported to us for the ear prosthesis. We report a case of the wildervanck cervicooculoacoustic syndrome exhibiting klippelfeil anomaly, congenital sensorineural deafness and bilateral sixth nerve palsy. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
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