Tags

Type your tag names separated by a space and hit enter

Short rib-polydactyly syndrome, Majewski type.
Am J Med Genet. 1980; 7(2):215-22.AJ

Abstract

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.

Authors

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

7468649

Citation

Chen, H, et al. "Short Rib-polydactyly Syndrome, Majewski Type." American Journal of Medical Genetics, vol. 7, no. 2, 1980, pp. 215-22.
Chen H, Yang SS, Gonzalez E, et al. Short rib-polydactyly syndrome, Majewski type. Am J Med Genet. 1980;7(2):215-22.
Chen, H., Yang, S. S., Gonzalez, E., Fowler, M., & Al Saadi, A. (1980). Short rib-polydactyly syndrome, Majewski type. American Journal of Medical Genetics, 7(2), 215-22.
Chen H, et al. Short Rib-polydactyly Syndrome, Majewski Type. Am J Med Genet. 1980;7(2):215-22. PubMed PMID: 7468649.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short rib-polydactyly syndrome, Majewski type. AU - Chen,H, AU - Yang,S S, AU - Gonzalez,E, AU - Fowler,M, AU - Al Saadi,A, PY - 1980/1/1/pubmed PY - 1980/1/1/medline PY - 1980/1/1/entrez SP - 215 EP - 22 JF - American journal of medical genetics JO - Am J Med Genet VL - 7 IS - 2 N2 - A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7468649/Short_rib_polydactyly_syndrome_Majewski_type_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1980&volume=7&issue=2&spage=215 DB - PRIME DP - Unbound Medicine ER -