Hearing loss in the cervicooculoacoustic wildervanck. We report a case with klippelfeil kfs syndrome associated with hypertelorism, microtia, sprengel deformity, hand and feet deformities, scoliosis, clinical manifestations of klippeltrenaunay syndrome, other anomalies, and severe arterial hypertension secondary to. Wildervanck syndrome nord national organization for. Both malformation syndromes are dominantly inherited. Radiologically, there is a failure of cervical segmentation. Epub access policy full text in epub is free except for the current issue.
In some individuals with wildervanck syndrome, treatment measures may. Duane syndrome ds is a congenital eye movement disorder characterized by limitation of abduction andor adduction accompanied with lid fissure narrowing. Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. Pdf we describe a girl presented with facial asymmetry and oral mucosal cleft and with further investigations other anomalies were found. Since that original paper, there have been further. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for wildervanck syndrome. Wildervancks syndrome is known to be the most common multiple congenital abnormality found in association with duanes. Dermatologists, othorhinolaryngologists, general practitioners, general and plastic surgeons are regularly consulted regarding cutaneous lesions on the ear.
Duanes syndrome ballard free download as powerpoint presentation. Wildervanck syndrome is characterized by the triad of cervical vertebral fusion klippelfeil anomaly, see this term, bilateral abducens palsy. Cureus congenital synostosis of cervical vertebrae. Pdf access policy full text access is free in html pages. Comparisons may be useful for a differential diagnosis. Associated anomalies included short stature, microcephaly, mental retardation. Syndromic sensorineural hearing loss clinical presentation. We describe a patient with brain stem malformation, paroxysmal left sided lacrimation when eating crocodile tears and mirror movements in addition to wildervanck s cervicooculoacusticus coa syndrome, which encompasses klippelfeil anomaly, congenital hearing loss and duanes syndrome. Hearing loss in the cervicooculoacoustic wildervanck syndrome. Short case report 17 early diagnosis of branchiooculofacial syndrome in a patient with inner ear malformation and mild ocular involvement licia luglia, walter juste, elisabetta genovesec, silvia palmad, fabrizio ferraria and antonio percesepeb clinical dysmorphology 2015, 24. Auricular appendages and benign skin adnexal tumours like ceruminous adenoma and pleomorphic adenoma. A unique case of phaces syndrome confirming the assumption that phaces syndrome and the sternal malformationvascular dysplasia association are part of. Three major features result from this vertebral fusion.
Wildervanck or cervicooculoacoustic syndrome and mri. Subsequent reports have confirmed that the wildervanck syndrome occurs sporadically, preferentially affects girls, and may be. Wildervanck syndrome nord national organization for rare. Oral findings and dental treatment in a patient with dandy.
Synkinesis is not a true spontaneous discharge but is an involuntary response in a muscle as a result of voluntary contraction of a distant muscle. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic. Isolated atlantal stenosis is very rare with less than ten cases reported, mostly in adult asians. Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi. Vertebral artery dissection in a patient with wildervanck. We report a case of the wildervanck cervicooculoacoustic syndrome exhibiting klippelfeil anomaly, congenital sensorineural deafness and bilateral sixth nerve palsy. We report the intracellular reduced glutathione igsh levels in patients with either primary mitochondrial disease or organic acidemias. Deafness and the klippelfeil syndrome the journal of. The incidence of the condition is not known, and nothing is known of its. We use cookies to distinguish you from other users and to provide you with a better experience on our websites. In addition, she had bilateral lens subluxation and facial paralysis, neither of which have been reported in patients with wildervancks syndrome. Furthermore, cfcv may be noticed in wildervanck syndrome, which is characterized by a klippelfeil deformity of the cervical vertebrae in combination with abducens palsy with retracted bulbi and hearing loss.
Audiological abnormalities in the klippelfeil syndrome. Kudos is a free service that helps authors explain, share and measure their article for maximum impact. There are similarities with the acrorenalocular syndrome in which there are radial ray and renal abnormalities and colobomas which mostly involve the optic nerve. This syndrome is characterized by congenital fusion of 2 or more cervical vertebrae, high scapula, spina bifida, facial asymmetry, spasticity, and congenital heart defects. Solitary cylindroma of tragus of the ear mimicking a. The glutathione system is the main natural defense mechanism that helps to combat oxidative damage. 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. This paper presents a rare case of goldenhar syndrome in a 6 year old boy reported to us for the ear. This article will focus on those diseases wherefore surgery or laser therapy is considered as a possible treatment option. 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. Skin diseases on the external aspect of the ear are seen in a variety of medical disciplines.
Klippelfeil syndrome congenital ossicular anomalies. Klippelfeil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Herein we report on an adolescent patient with gorlin syndrome and coexisting congenital mirror movements. Klippelfeil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. Complete labyrinthine aplasia cla, michel anomaly is a severe anomaly of the ear defined by total absence of inner ear structures. Wildervanck syndrome, also known as cervicoocularacoustic dysplasia, consists of the triad of. The finding of paradoxical electromyographic activity of the medial rectus in duane type i syndrome is rare. Wildervanck syndrome genetic and rare diseases information. In 1952, wildervanck described the first case of what he styled the cervicooculoacoustic coa syndrome. Clinicoradiological findings article pdf available in bmj case reports 20apr23 1 april 20 with. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. Nine patients five patients with autosomaldominant mirror movements, three with kallmann syndrome, one with wildervanck syndrome and 10 healthy control subjects participated in the study. For language access assistance, contact the ncats public information officer. Access to the latest issue is reserved only for the paid subscribers.
It is characterized by klippelfeil anomaly in which the bones of the neck fuse together, duane syndrome an eye movement disorder, and hearing loss. We describe a patient with brain stem malformation, paroxysmal left sided lacrimation when eating crocodile tears and mirror movements in addition to wildervancks cervicooculoacusticus coa syndrome, which encompasses klippelfeil anomaly, congenital hearing loss and duanes syndrome. Goldenhar syndrome with unusual features mehta b, nayak c. Auricular appendages are harmless lesions, sometimes associated with goldenhar syndrome and wildervanck syndrome. Goldenhar syndrome with unusual features bijal mehta, chitra nayak, shankar savant, sangeeta amladi department of dermatology, t.
We report a caucasian girl with symptomatic stenosis of the first cervical vertebrae who presented with. Medial rectus electromyographic abnormalities in duane. Deafness and the klippelfeil syndrome volume 83 issue 2 k. 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 your fingertips. 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 anomaly fused cervical vertebrae congenital hearing loss. Other syndromes associated with multiple preauricular tragi include treachercollins syndrome, wolfhirschhorn syndrome, nagers acrofacial dysostosis, wildervanck syndrome cervicooculoacoustic syndrome, townesbrocks syndrome, and delleman syndrome. The audiological assessment of 44 patients with kfs is reported. Clinicoradiological findings article pdf available in bmj case reports 20apr23 1 april 20 with 289 reads how we measure reads.
Duane retraction syndrome drs was described as early as 1879 by heuck and it was illustrated by stilling et al. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with wildervanck syndrome. Wildervanck syndrome or cervicooculoacoustic syndrome comprises a triad of. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Subsequent reports have confirmed that the wildervanck syndrome occurs sporadically, preferentially affects girls, and may be associated with paralysis of other lower cranial nerves. Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. Skip to main content accessibility help we use cookies to distinguish you from other users and to provide you with a better experience on our websites. Isolated atlantal stenosis in a patient with idiopathic. Reasons for this may be that a dual innervation of. Early diagnosis of branchiooculofacial syndrome in a. Wildervanck syndrome cervicooculoacoustic syndrome. In 1952, wildervanck 1 described a cervicooculoacoustic syndrome consisting of klippelfeil deformity, abducens palsy with globe retraction, and congenital hearing loss.
A 22yearold woman with mixed hearing loss, klippelfeil anomalad fused cervical vertebrae, and bilateral abducens palsy with retracted bulb duanes. This comprises klippel feils kf anomaly congenitally fused cervical vertebrae, congenital sensorineural deafness and duanes retraction syndrome deficient abduction with retraction on adduction. Now, a broader terminology has been used to bring under one umbrella all disorders with associated loss of innervation to motor muscles. When associated with bilateral abducens palsy and hearing loss, it is referred to as wildervanck syndrome. Know the causes, symptoms, treatment of wildervanck syndrome. Symptoms of the following disorders may be similar to those of wildervanck syndrome. The okihiro syndrome consists of duane anomaly, radial ray defects, and deafness. A 22yearold woman with mixed hearing loss, klippelfeil anomalad fused cervical vertebrae, and bilateral abducens palsy with retracted bulb duanes syndrome is classified as having the cervicooculoacoustic syndrome or wildervanck syndrome.
In 1952, wildervanck1 described a cervicooculoacoustic syndrome consisting of klippelfeil deformity, abducens palsy with globe retraction, and congenital hearing loss. An unusual case of this rare clinical entity is reported in conjunction with multiple other anomalies. Wildervanck syndrome is characterized by the triad of cervical vertebral fusion. We report two families with an overlapping phenotype. Please feel free to call jennifer oldenburg at 256 76241 if you have any questions.
If you have problems viewing pdf files, download the latest version of adobe reader. Close this message to accept cookies or find out how to manage your cookie settings. Such association of congenital heart disease with wildervanck syndrome has not been reported previously. Wildervanck syndrome associated with cleft palate and short stature. We report a case of wildervanck syndrome exhibiting klippelfeil anomaly, duane retraction syndrome and deafness. Four out of ten members of the family affected with preauricular pits, malformed auricles and conductive type of hearing loss, are reported in. Synkinesis occurs from aberrant reinnervation to a previously denervated muscle, from collateral sprouting of a nerve supplying a different muscle. Brainstem hypoplasia in the wildervanck cervicooculo.
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