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Distal arthrogryposis
Known as:
Arthrogryposis, distal
, distal arthrogryposis syndrome
A form of arthrogryposis primarily affecting the hands and the feet. [HPO:probinson]
National Institutes of Health
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2 relations
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ARTHROGRYPOSIS, DISTAL, TYPE 1
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Case of distal arthrogryposis in the fetus
U. Strupeneva
,
E. S. Shabanova
,
I. Shevchenko
2017
Corpus ID: 202809245
Review
2017
Review
2017
Síndrome de Freeman Sheldon reporte de caso y revisión de la literatura.
Federico Reina-Ramírez
,
Natalia Jiménez Cardozo
,
P. Hurtado-Villa
2017
Corpus ID: 194535188
El sindrome de Freeman Sheldon (SFS), descrito como parte del grupo de artrogriposis distales, se caracteriza por anomalias oseas…
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2015
2015
Pregnancy in a patient with distal arthrogryposis type 2B: clinical diagnosis, prenatal diagnosis and genetic counseling
M. Rodrigues
,
D. Antunes
,
+5 authors
Luis V. Nunes
2015
Corpus ID: 78320770
21 XLIV conferências de genética Doutor Jacinto Magalhães S resumos de posters explained by the number of SMN2 copies, since the…
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2015
2015
Arora-Nirwane-Samant syndrome: A variant of Freeman-Sheldon syndrome
M. Arora
,
Rajeev Nirwane
,
P. Samant
2015
Corpus ID: 79211570
Freeman-Sheldon syndrome (FSS) is a rare inherited form of distal arthrogryposis characterized by craniofacial abnormalities…
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2009
2009
Arthrogryposis. Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis
E. Kimber
2009
Corpus ID: 7630962
Arthrogryposis Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis Background. Arthrogryposis…
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1999
1999
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?
R. Boles
Clinical Dysmorphology
1999
Corpus ID: 2872034
A case is presented of a female with cleft palate, digital anomalies and mental retardation. The case is compared with one…
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1997
1997
Proteus syndrome and distal arthrogryposis.
D. Ioan
,
N. Efimov
,
S. Milcu
,
J. Fryns
Genetic Counseling
1997
Corpus ID: 10826764
1987
1987
Distal arthrogryposis type II D in three generations of a Brazilian family.
N. Pagnan
,
T. Gollop
American journal of medical genetics
1987
Corpus ID: 39883469
We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was…
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1984
1984
[Connatal ptosis: a symptom of the syndrome of multiple pterygium and arthrogryposes].
J. Böckel
,
F. Grassl
,
R. Pfeiffer
,
K. Ruprecht
,
E. Heidbreder
Klinische Monatsblätter für Augenheilkunde
1984
Corpus ID: 11782438
Report on a 56-year-old female exhibiting features of the multiple pterygium syndrome, e.g., puffiness and ptosis of the upper…
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1982
1982
Familial arthrogryposis with distal involvement of the limbs.
T. Kasai
,
T. Oki
,
T. Osuga
,
H. Nogami
Clinical Orthopaedics and Related Research
1982
Corpus ID: 12078491
Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial…
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