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Congenital Camptodactyly
Known as:
Camptodactyly
, camptodactylia
, campylodactyly
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active…
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National Institutes of Health
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Related topics
Related topics
50 relations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis and ectodermal dysplasia
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
K. Tatton-Brown
,
Anne Murray
,
+30 authors
N. Rahman
American Journal of Medical Genetics. Part A
2013
Corpus ID: 24616267
Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable…
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Highly Cited
2005
Highly Cited
2005
Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis
P. Robinson
,
L. Neumann
,
+10 authors
S. Tinschert
American Journal of Medical Genetics. Part A
2005
Corpus ID: 37203887
The Shprintzen–Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and…
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Highly Cited
2005
Highly Cited
2005
Facial and physical features of Aicardi syndrome: Infants to teenagers
V. Sutton
,
B. Hopkins
,
Tanya N Eble
,
Nikki Gambhir
,
R. Lewis
,
I. B. Van den Veyver
American Journal of Medical Genetics. Part A
2005
Corpus ID: 23969163
Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations…
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Highly Cited
2003
Highly Cited
2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
M. Rio
,
L. Clech
,
+14 authors
V. Cormier-Daire
Journal of Medical Genetics
2003
Corpus ID: 10043241
Sotos syndrome is an overgrowth syndrome characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and…
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Highly Cited
2001
Highly Cited
2001
Detection of superficial zone protein in human and animal body fluids by cross-species monoclonal antibodies specific to superficial zone protein.
J. Su
,
B. Schumacher
,
+5 authors
T. Schmid
Hybridoma
2001
Corpus ID: 24090203
In this report we describe the purification of human superficial zone protein (SZP), the generation of cross-species monoclonal…
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Highly Cited
1999
Highly Cited
1999
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
J. Marcelino
,
J. Carpten
,
+22 authors
M. Warman
Nature Genetics
1999
Corpus ID: 32556762
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of…
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Review
1982
Review
1982
Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases.
J. M. Lieblich
,
A. Rogol
,
B. White
,
S. Rosen
American Journal of Medicine
1982
Corpus ID: 11924032
Abstract We have studied 23 patients (14 men, nine women) in 18 kindreds with anosmia and hypogonadotropic hypogonadism. Seven…
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Highly Cited
1974
Highly Cited
1974
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
Sérgio D.J. Pena
,
M.H.K. Shokeir
Jornal de Pediatria
1974
Corpus ID: 29800499
Highly Cited
1974
Highly Cited
1974
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.
D. Weaver
,
C. B. Graham
,
I. Thomas
,
David W. Smith
Jornal de Pediatria
1974
Corpus ID: 39436607
Highly Cited
1965
Highly Cited
1965
A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.
David W. Smith
,
J. Opitz
,
Stanley L. Inhorn
Jornal de Pediatria
1965
Corpus ID: 27634981
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