Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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
Expand

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.
Highly Cited
2015
Highly Cited
2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
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
2004
2004
Short rib-polydactyly syndrome
IntroductionShort rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by… Expand
  • figure 1
  • figure 2
  • figure 3
Highly Cited
2002
Highly Cited
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
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
Highly Cited
1987
Highly Cited
1987
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types… Expand
Highly Cited
1985
Highly Cited
1985
Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological… Expand
1980
1980
Non-Majewski short rib-polydactyly syndrome.
  • 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
Short rib-polydactyly syndrome, Majewski type.
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
Short rib-polydactyly syndrome type 3.
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE