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New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
Am J Med Genet. 1993 Feb 15; 45(4):511-8.AJ

Abstract

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence.

Authors+Show Affiliations

Institut für Humangenetik, Universitätsklinikum Essen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8465860

Citation

Gillessen-Kaesbach, G, et al. "New Autosomal Recessive Lethal Disorder With Polycystic Kidneys Type Potter I, Characteristic Face, Microcephaly, Brachymelia, and Congenital Heart Defects." American Journal of Medical Genetics, vol. 45, no. 4, 1993, pp. 511-8.
Gillessen-Kaesbach G, Meinecke P, Garrett C, et al. New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet. 1993;45(4):511-8.
Gillessen-Kaesbach, G., Meinecke, P., Garrett, C., Padberg, B. C., Rehder, H., & Passarge, E. (1993). New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. American Journal of Medical Genetics, 45(4), 511-8.
Gillessen-Kaesbach G, et al. New Autosomal Recessive Lethal Disorder With Polycystic Kidneys Type Potter I, Characteristic Face, Microcephaly, Brachymelia, and Congenital Heart Defects. Am J Med Genet. 1993 Feb 15;45(4):511-8. PubMed PMID: 8465860.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. AU - Gillessen-Kaesbach,G, AU - Meinecke,P, AU - Garrett,C, AU - Padberg,B C, AU - Rehder,H, AU - Passarge,E, PY - 1993/2/15/pubmed PY - 1993/2/15/medline PY - 1993/2/15/entrez SP - 511 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 4 N2 - We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8465860/New_autosomal_recessive_lethal_disorder_with_polycystic_kidneys_type_Potter_I_characteristic_face_microcephaly_brachymelia_and_congenital_heart_defects_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=4&spage=511 DB - PRIME DP - Unbound Medicine ER -