Unusual short rib-polydactyly syndrome

Y. C. Tsai; J. M. Chang; C. C. Changchien; H. L. Eng; W. J. Chen; C. C. Lui -; C. B. Huang

doi:10.1002/ajmg.1320440108

Unusual short rib-polydactyly syndrome

Y. C. Tsai^*
, J. M. Chang
, C. C. Changchien
, H. L. Eng
, W. J. Chen
, C. C. Lui -
, C. B. Huang

^*Corresponding author for this work

Chang Gung Memorial Hospital

Research output: Contribution to journal › Journal Article › peer-review

20 Scopus citations

Abstract

We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

Original language	English
Pages (from-to)	31-36
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	44
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320440108
State	Published - 1992
Externally published	Yes

Keywords

autosomal recessive inheritance
lethal skeletal dysplasia
neonatal death
polydactyly
short-rib polydactyly syndrome
short-rib syndrome

UN SDGs

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

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10.1002/ajmg.1320440108

Cite this

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title = "Unusual short rib-polydactyly syndrome",

abstract = "We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.",

keywords = "autosomal recessive inheritance, lethal skeletal dysplasia, neonatal death, polydactyly, short-rib polydactyly syndrome, short-rib syndrome",

author = "Tsai, \{Y. C.\} and Chang, \{J. M.\} and Changchien, \{C. C.\} and Eng, \{H. L.\} and Chen, \{W. J.\} and \{Lui -\}, \{C. C.\} and Huang, \{C. B.\}",

year = "1992",

doi = "10.1002/ajmg.1320440108",

language = "英语",

volume = "44",

pages = "31--36",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley Blackwell",

number = "1",

}

TY - JOUR

T1 - Unusual short rib-polydactyly syndrome

AU - Tsai, Y. C.

AU - Chang, J. M.

AU - Changchien, C. C.

AU - Eng, H. L.

AU - Chen, W. J.

AU - Lui -, C. C.

AU - Huang, C. B.

PY - 1992

Y1 - 1992

N2 - We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

AB - We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

KW - autosomal recessive inheritance

KW - lethal skeletal dysplasia

KW - neonatal death

KW - polydactyly

KW - short-rib polydactyly syndrome

KW - short-rib syndrome

UR - https://www.scopus.com/pages/publications/0026657632

U2 - 10.1002/ajmg.1320440108

DO - 10.1002/ajmg.1320440108

M3 - 文章

C2 - 1519646

AN - SCOPUS:0026657632

SN - 0148-7299

VL - 44

SP - 31

EP - 36

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

Unusual short rib-polydactyly syndrome

Abstract

Keywords

UN SDGs

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