Tags

Type your tag names separated by a space and hit enter

Zimmer phocomelia: delineation by principal coordinate analysis.
Am J Med Genet. 1996 Dec 02; 66(1):55-9.AJ

Abstract

We present a 46,XX stillborn fetus with tetraphocomelia, absence of ears, severe hypoplasia of nose, cleft palate, pulmonary hypoplasia, imperforate anus and vagina, and phallus-like structure on an otherwise undefined perineum. The pattern of abnormalities resembles the tetraphocomelic condition described by Zimmer et al. in 1985. Tetraphocomelia, ear/nose hypoplasia with facial clefts, pulmonary hypoplasia, and defects of the caudal end including imperforate anus, and abnormal genitalia constitute a distinct pattern of malformation termed Zimmer phocomelia. Principal coordinate analysis with Gower's similarity index supported the clinical impression that cases reported by Zimmer and the present case are distinct from other phocomelic conditions. Although Zimmer phocomelia is currently referred to as "X-linked amelia," documentation of a female case with a penis-like structure in this report as well as consanguinity in the original family in Zimmer's report indicates that this condition is likely inherited in an autosomal recessive fashion. Zimmer phocomelia may be a more appropriate name than X-linked amelia.

Authors+Show Affiliations

Department of Pediatrics, University of California, San Diego, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8957512

Citation

Kosaki, K, et al. "Zimmer Phocomelia: Delineation By Principal Coordinate Analysis." American Journal of Medical Genetics, vol. 66, no. 1, 1996, pp. 55-9.
Kosaki K, Jones MC, Stayboldt C. Zimmer phocomelia: delineation by principal coordinate analysis. Am J Med Genet. 1996;66(1):55-9.
Kosaki, K., Jones, M. C., & Stayboldt, C. (1996). Zimmer phocomelia: delineation by principal coordinate analysis. American Journal of Medical Genetics, 66(1), 55-9.
Kosaki K, Jones MC, Stayboldt C. Zimmer Phocomelia: Delineation By Principal Coordinate Analysis. Am J Med Genet. 1996 Dec 2;66(1):55-9. PubMed PMID: 8957512.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Zimmer phocomelia: delineation by principal coordinate analysis. AU - Kosaki,K, AU - Jones,M C, AU - Stayboldt,C, PY - 1996/12/2/pubmed PY - 2000/6/20/medline PY - 1996/12/2/entrez SP - 55 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 66 IS - 1 N2 - We present a 46,XX stillborn fetus with tetraphocomelia, absence of ears, severe hypoplasia of nose, cleft palate, pulmonary hypoplasia, imperforate anus and vagina, and phallus-like structure on an otherwise undefined perineum. The pattern of abnormalities resembles the tetraphocomelic condition described by Zimmer et al. in 1985. Tetraphocomelia, ear/nose hypoplasia with facial clefts, pulmonary hypoplasia, and defects of the caudal end including imperforate anus, and abnormal genitalia constitute a distinct pattern of malformation termed Zimmer phocomelia. Principal coordinate analysis with Gower's similarity index supported the clinical impression that cases reported by Zimmer and the present case are distinct from other phocomelic conditions. Although Zimmer phocomelia is currently referred to as "X-linked amelia," documentation of a female case with a penis-like structure in this report as well as consanguinity in the original family in Zimmer's report indicates that this condition is likely inherited in an autosomal recessive fashion. Zimmer phocomelia may be a more appropriate name than X-linked amelia. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8957512/Zimmer_phocomelia:_delineation_by_principal_coordinate_analysis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=66&issue=1&spage=55 DB - PRIME DP - Unbound Medicine ER -