Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association of congenital ophthalmoplegia and facial paresis (Moebius syndrome) with a variety of other developmental somatic defects has been widely recognised. Its co-existence with hypogonadism of hypothalamic/pituitary origin and subclinical peripheral neuropathy has been reported and in this paper we describe the second case of the Moebius syndrome in association with hypogonadotrophic hypogonadism and a progressive peripheral neuropathy of mixed axonal and demyelinating type.
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PMID:Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism. 20 51

A case report of Moebius syndrome is presented. The syndrome includes bilateral facial and abducens nerve paresis, muscular hypoplasia, adactylia, club foot, and possible mental retardation. This particular patient had bilateral facial and abducens nerve paralysis, mandibular hypoplasia, pectoral muscle hypoplasia, adactylia, and bilateral clubbed feet.
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PMID:Moebius syndrome. 105 90

We report a case of unilateral transient and reversible facial paresis, which was superimposed on a congenital bifacial palsy in a young adult with Moebius syndrome. Our case illustrates the potential for two conditions, both affecting the facial nerve and both of unknown etiology, to be juxtaposed in a single individual. Worsening of facial palsy in the Moebius syndrome may not signify progressive disease.
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PMID:Bell's palsy in Moebius syndrome. 191 24

Moebius syndrome is usually sporadic. The few familial cases reported in the literature have autosomal dominant inheritance, with absence of the associated congenital malformations often described in the sporadic form. Here we report two families with more than one member affected by congenital, unilateral paresis of cranial nerves, transmitted with autosomal dominant inheritance.
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PMID:Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families. 261 29

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of Apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc.
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PMID:Athabascan brainstem dysgenesis syndrome. 1283 95

An eight-year-old girl with bilateral facial paresis and restricted eye movements was diagnosed with Moebius syndrome. A chromosomal analysis showed a paracentric inversion on the long arm of chromosome 8 (46, XX, inv(8) (q21.3q24.13)). Candidate genes have been found on chromosomes 3q21, 10q21, and 13q12. We discuss the genes which are known to have associated ocular movement dysfunction in the 8q21-24 region. We hope this case will add to the current body of knowledge regarding Moebius syndrome and its genetics.
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PMID:A report of paracentric inversion of chromosome 8 in Moebius syndrome. 1654 99

Hereditary congenital facial paresis is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Most described cases follow an autosomal dominant pattern of inheritance. It differs from Moebius syndrome, which is usually sporadic and associated with the involvement of other cranial nerves, commonly the abducens nerve in addition to orofacial and limb malformations and defects of the musculoskeletal system. We present three patients from the same family with features of congenital hereditary facial paresis. Facial asymmetry and facial weakness were the most remarkable findings. High-resolution imaging showed both facial nerves to be present but symmetrically and markedly hypoplastic with no other structural abnormality in the brainstem. This syndrome has been previously mapped to chromosome 3q21-22 but no gene has been identified as yet.
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PMID:A family with hereditary congenital facial paresis and a brief review of the literature. 2057 83