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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2018
02419742018

Papers overview

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2015
2015
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders… (More)
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Highly Cited
2009
Highly Cited
2009
Jeune asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow… (More)
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2004
2004
Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs… (More)
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2002
2002
The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized… (More)
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1995
1995
We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants… (More)
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1987
1987
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types… (More)
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1980
1980
A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2… (More)
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1980
1980
Clinical, radiographic, and morphologic studies of non-Majewski short rib-polydactyly cases show a spectrum of abnormalities… (More)
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1979
1979
Two male siblings with a short rib-polydactyly syndrome, Majewski type (Majewski syndrome), are reported. To our knowledge, the… (More)
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1977
1977
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from… (More)
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