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Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.
Am J Med Genet. 1998 Apr 28; 77(1):1-7.AJ

Abstract

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.

Authors+Show Affiliations

Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9557884

Citation

Nishimura, G, et al. "Previously Undescribed Spondyloepiphyseal Dysplasia Associated With Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation: Report of Four Sibs." American Journal of Medical Genetics, vol. 77, no. 1, 1998, pp. 1-7.
Nishimura G, Fukushima Y, Aihara T, et al. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. Am J Med Genet. 1998;77(1):1-7.
Nishimura, G., Fukushima, Y., Aihara, T., Ohashi, H., Nishimoto, H., & Nishimura, J. (1998). Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. American Journal of Medical Genetics, 77(1), 1-7.
Nishimura G, et al. Previously Undescribed Spondyloepiphyseal Dysplasia Associated With Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation: Report of Four Sibs. Am J Med Genet. 1998 Apr 28;77(1):1-7. PubMed PMID: 9557884.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. AU - Nishimura,G, AU - Fukushima,Y, AU - Aihara,T, AU - Ohashi,H, AU - Nishimoto,H, AU - Nishimura,J, PY - 1998/4/29/pubmed PY - 2000/6/20/medline PY - 1998/4/29/entrez SP - 1 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 77 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9557884/Previously_undescribed_spondyloepiphyseal_dysplasia_associated_with_craniosynostosis_cataracts_cleft_palate_and_mental_retardation:_report_of_four_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=77&issue=1&spage=1 DB - PRIME DP - Unbound Medicine ER -