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Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?
Am J Med Genet. 1996 Mar 01; 62(1):42-7.AJ

Abstract

We present a 4-generation family in which affected individuals have cataracts, a motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities. An additional symptom is weakness during pregnancy which resolves after delivery. The condition is inherited in an autosomal dominant manner. The manifestations and inheritance are not found in any previously described conditions. We consider that this is a new syndrome.

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Authors+Show Affiliations

Slavotinek AM
Department of Clinical Genetics, Oxford Radcliffe Hospital, United Kingdom.
Pike M
No affiliation info available
Mills K
No affiliation info available
Hurst JA
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultCataractChildChild, PreschoolDwarfismFemaleFollow-Up StudiesGenes, DominantHumansLearning DisabilitiesMaleMiddle AgedPedigreePsychomotor DisordersSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8779323

Citation

Slavotinek, A M., et al. "Cataracts, Motor System Disorder, Short Stature, Learning Difficulties, and Skeletal Abnormalities: a New Syndrome?" American Journal of Medical Genetics, vol. 62, no. 1, 1996, pp. 42-7.
Slavotinek AM, Pike M, Mills K, et al. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet. 1996;62(1):42-7.
Slavotinek, A. M., Pike, M., Mills, K., & Hurst, J. A. (1996). Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? American Journal of Medical Genetics, 62(1), 42-7.
Slavotinek AM, et al. Cataracts, Motor System Disorder, Short Stature, Learning Difficulties, and Skeletal Abnormalities: a New Syndrome. Am J Med Genet. 1996 Mar 1;62(1):42-7. PubMed PMID: 8779323.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? AU - Slavotinek,A M, AU - Pike,M, AU - Mills,K, AU - Hurst,J A, PY - 1996/3/1/pubmed PY - 2000/6/20/medline PY - 1996/3/1/entrez SP - 42 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 62 IS - 1 N2 - We present a 4-generation family in which affected individuals have cataracts, a motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities. An additional symptom is weakness during pregnancy which resolves after delivery. The condition is inherited in an autosomal dominant manner. The manifestations and inheritance are not found in any previously described conditions. We consider that this is a new syndrome. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/8779323/Cataracts_motor_system_disorder_short_stature_learning_difficulties_and_skeletal_abnormalities:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=1&spage=42 DB - PRIME DP - Unbound Medicine ER -