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Achondrogenesis type II with polydactyly.
Am J Med Genet. 1995 Nov 06; 59(2):157-60.AJ

Abstract

We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short-rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed.

Authors+Show Affiliations

Sección Genética Médica, Hospital Maternoinfantil Ramón Sardá, Buenos Aires, Argentina.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8588578

Citation

Rittler, M, and I M. Orioli. "Achondrogenesis Type II With Polydactyly." American Journal of Medical Genetics, vol. 59, no. 2, 1995, pp. 157-60.
Rittler M, Orioli IM. Achondrogenesis type II with polydactyly. Am J Med Genet. 1995;59(2):157-60.
Rittler, M., & Orioli, I. M. (1995). Achondrogenesis type II with polydactyly. American Journal of Medical Genetics, 59(2), 157-60.
Rittler M, Orioli IM. Achondrogenesis Type II With Polydactyly. Am J Med Genet. 1995 Nov 6;59(2):157-60. PubMed PMID: 8588578.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Achondrogenesis type II with polydactyly. AU - Rittler,M, AU - Orioli,I M, PY - 1995/11/6/pubmed PY - 1995/11/6/medline PY - 1995/11/6/entrez SP - 157 EP - 60 JF - American journal of medical genetics JO - Am J Med Genet VL - 59 IS - 2 N2 - We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short-rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8588578/Achondrogenesis_type_II_with_polydactyly_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=59&issue=2&spage=157 DB - PRIME DP - Unbound Medicine ER -