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Short Rib-Polydactyly Syndrome

Known as: Short Rib Polydactyly Syndrome, Short Rib-Polydactyly Syndrome [Disease/Finding], Short Rib-Polydactyly Syndromes 
A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short ribs, the latter resulting in inability of the… Expand
National Institutes of Health

Related topics

Related topics

10 relations
In BloodMicrobiologicalchemically inducednursing therapy
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Narrower (4)

Majewski SyndromeSaldino-Noonan SyndromeShort rib-polydactyly syndrome, Beemer typeShort rib-polydactyly syndrome, Verma-Naumoff type

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal… Expand
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2015
2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders… Expand
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Highly Cited
2009
Highly Cited
2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Jeune asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow… Expand
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2004
2004
Short rib-polydactyly syndrome
IntroductionShort rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by… Expand
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2002
2002
Diagnostic dilemmas in the short rib-polydactyly syndrome group.
The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized… Expand
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Review
2001
Review
2001
Clinical aspects of defects in the determination of laterality.
Of individuals in the human population, 99.99% have developed identical thoracoabdominal asymmetry with the cardiac apex, a… Expand
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1995
1995
Prenatal diagnosis of recurrence of short rib-polydactyly syndrome.
We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants… Expand
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1993
1993
Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap… Expand
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1980
1980
Non-Majewski short rib-polydactyly syndrome.
Clinical, radiographic, and morphologic studies of non-Majewski short rib-polydactyly cases show a spectrum of abnormalities… Expand
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1977
1977
Short rib-polydactyly syndrome type 3.
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from… Expand
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