New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

G. Gillessen-Kaesbach; P. Meinecke; C. Garrett; B. C. Padberg; H. Rehder; E. Passarge

doi:10.1002/ajmg.1320450422

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

G. Gillessen-Kaesbach^*, P. Meinecke, C. Garrett, B. C. Padberg, H. Rehder, E. Passarge

^*Corresponding author for this work

Institute of Human Genetics

University of Duisburg-Essen

18 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Medical Genetics
Volume	45
Issue number	4
Pages (from-to)	511-518
Number of pages	8
ISSN	0148-7299
DOIs	https://doi.org/10.1002/ajmg.1320450422
Publication status	Published - 1993

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Research Area: Medical Genetics

Access to Document

10.1002/ajmg.1320450422

Cite this

@article{6c222f9551734c10ba934fda97cfd372,

title = "New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects",

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.",

author = "G. Gillessen-Kaesbach and P. Meinecke and C. Garrett and Padberg, \{B. C.\} and H. Rehder and E. Passarge",

year = "1993",

doi = "10.1002/ajmg.1320450422",

language = "English",

volume = "45",

pages = "511--518",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "John Wiley and Sons Inc",

number = "4",

}

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. / Gillessen-Kaesbach, G.; Meinecke, P.; Garrett, C. et al.
In: American Journal of Medical Genetics, Vol. 45, No. 4, 1993, p. 511-518.

Research output: Journal Articles › Journal articles › Research › peer-review

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

Y1 - 1993

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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0027473527

U2 - 10.1002/ajmg.1320450422

DO - 10.1002/ajmg.1320450422

M3 - Journal articles

C2 - 8465860

AN - SCOPUS:0027473527

SN - 0148-7299

VL - 45

SP - 511

EP - 518

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

Abstract

UN SDGs

Research Areas and Centers

Access to Document

Other files and links

Fingerprint

Cite this