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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

The unusual association of an omovertebral bone with Sprengel deformity and Klippel-Feil syndrome is a complex bone anomaly of unknown incidence and etiology. However, several cases of this rare disease pattern have been reported in the literature. In this paper, the authors present the case of a 34-year-old woman with a 5-month history of progressive gait ataxia and intermittent urinary incontinence, which was found to be caused by aberrant bone growth into the spinal canal from an omovertebral bone that extended from the left scapula pressing into the C-6 vertebral arch and subsequently causing cervical myelopathy. The patient underwent isolated resection of the omovertebral bone and decompression of the spinal canal, and her functional and neurological outcome was favorable.
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PMID:Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. 2067 58

Klippel-Feil syndrome is a rare condition characterized by the congenital fusion of two of the seventh cervical vertebrae. A 50-year-old woman presented with a 2-year history of neck pain and ataxia for 1 year. She had not urinary incontinence. She was referred to a neurosurgeon by a neurologist because of her progressive gait ataxia. Risk for brachial plexus injury because of compression or stretching by the clavicle accelerate with age. Therefore, the surgical approach of adults' patients with Sprengel's deformity can intend suitable surgical conclusions.
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PMID:Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy presentation in old age. 2425 Jul 6