Otological findings in cervico-oculo-auditory dysplasia

Daniilidis, J; Demetriadis, A; Triaridis, C; Manolidis, L

doi:10.1017/s0022215100089210

Cited by 14 publications

(1 citation statement)

References 9 publications

(7 reference statements)

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“…The hearing loss may be sensorineural, conductive, or mixed in Wildervanck syndrome, and these patients may have malformations of external auditory canal, external acoustic meatus, ossicles and bony labyrinth (9,10). The present case also had atresia of right external auditory canal and anomalies of mastoid bone and ossicles, whereas the hearing in the right ear was normal.…”

Section: Discussionmentioning

confidence: 56%

An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

Anık¹,

Dursun²,

Polat³

et al. 2016

jpr

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Duane syndrome is a congenital eye movement disorder characterized by limitation of abduction and/or adduction accompanied with lid fissure narrowing, and globe retraction in attempted adduction. Duane syndrome is mostly an isolated entity, but systemic anomalies have been reported in 6-10% of patients. Wildervanck syndrome (cervico-oculo-acoustic syndrome) is a very rare disease comprised of the triad of Klippel-Feil deformity (congenitally fused cervical vertebrae), Duane syndrome, and hearing loss. The disorder is limited, or almost completely limited, to females, raising the question of sex-linked dominance with lethality in the hemizygous male. Herein, we describe an adolescent girl who was admitted to our clinic for obesity and diagnosed with Wildervanck syndrome due to bilateral abducens paralysis (Duane syndrome), Klippel-Feil deformity and hearing loss.

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Section: Discussionmentioning

confidence: 56%

An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

Anık¹,

Dursun²,

Polat³

et al. 2016

jpr

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Hearing Loss in the Cervico-oculo-acoustic (Wildervanck) Syndrome

Cremers¹,

Hoogland²,

Kuÿpers³

1984

Archives of Otolaryngology - Head and Neck Surgery

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Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

Bavinck

Weaver²

1986

Am. J. Med. Genet.

564

252

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A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.

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Otological findings in cervico-oculo-auditory dysplasia

Cited by 14 publications

References 9 publications

An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

Hearing Loss in the Cervico-oculo-acoustic (Wildervanck) Syndrome

Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

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