| Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. | |
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MedLine Citation:
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PMID: 9557884 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became substantial in early childhood. Radiological anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibiae, strikingly delayed patellar ossification, mild metaphyseal splaying, hypoplastic ilia with iliac flare, and platyspondyly with ovoid-shaped or posteriorly humped vertebral bodies. The nonconsanguineous parents were mildly mentally retarded, and sibs of both gender were equally affected; thus, inheritance was likely autosomal recessive. |
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Authors:
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G Nishimura; Y Fukushima; T Aihara; H Ohashi; H Nishimoto; J Nishimura |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 77 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-08-03 Completed Date: 1998-08-03 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1-7 Citation Subset: IM |
Affiliation:
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Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Cataract / diagnosis, genetics* Cleft Palate / diagnosis, genetics* Craniosynostoses / diagnosis, genetics* Female Humans Infant Infant, Newborn Male Mental Retardation / diagnosis, genetics* Osteochondrodysplasias / diagnosis, genetics* Pedigree Syndrome |
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