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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

Papers overview

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Highly Cited
2015
Highly Cited
2015
The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders… Expand
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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… Expand
2004
2004
IntroductionShort rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by… Expand
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Highly Cited
2002
Highly Cited
2002
The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized… Expand
1995
1995
We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants… Expand
Highly Cited
1987
Highly Cited
1987
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types… Expand
Highly Cited
1985
Highly Cited
1985
Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological… Expand
1980
1980
  • D. Sillence
  • American journal of medical genetics
  • 1980
  • Corpus ID: 2007243
Clinical, radiographic, and morphologic studies of non-Majewski short rib-polydactyly cases show a spectrum of abnormalities… Expand
1980
1980
A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2… Expand
Highly Cited
1977
Highly Cited
1977
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from… Expand