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osteodysplasia
National Institutes of Health
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Osteochondrodysplasias
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Scintigraphic differentiation of congenital soft-tissue extremity enlargement with Tc-99m DTPA
G. Mandell
,
C. Scott
,
H. Harcke
,
C. Sharkey
,
L. Harris
Skeletal Radiology
2004
Corpus ID: 19400414
Radionuclide imaging of benign soft-tissue tumors sometimes associated with extremity enlargement (7 patients) and/or…
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1999
1999
Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome.
A. Orrico
,
G. Hayek
,
L. Burroni
American journal of medical genetics
1999
Corpus ID: 12810938
We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe…
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1998
1998
Increased Urinary Excretion of Pyridinoline and Deoxypyridinoline in a Girl with Congenital Contractural Arachnodactyly
Y. Fujisawa
,
K. Yamashita
,
Yasuko Nakamura
,
K. Kida
Journal of Pediatric Endocrinology & Metabolism…
1998
Corpus ID: 41395978
Congenital contractural arachnodactyly (CCA) is caused by mutations in the gene for fibrillin 2 glycoprotein, a component of…
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1997
1997
[The Melnick-Needless syndrome (osteodysplasia). Report of a clinical case].
T. Tripi
Minerva Stomatologica
1997
Corpus ID: 8635220
The case of a girl with Melnick-Needles syndrome is reported. The face is characterized by prominent sopraorbital ridges…
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1996
1996
[Analysis of x-ray manifestations and changes in dysplastic lesions of the skull bones].
N. A. Rabukhina
,
A. I. Nerobeev
,
O. Baluta
Journal of radiology and nuclear medicine
1996
Corpus ID: 36344928
The paper deals with the analysis of X-ray manifestations of osteodysplasia of skull bones in 136 patients of different ages. It…
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1989
1989
[Prenatal sonographic diagnosis of a case of Desbuquois familial osseous dysplasia].
E. Grischke
,
J. Tröger
,
T. Schroeder-Kurth
,
W. Schmidt
Zeitschrift fur Geburtshilfe und Perinatologie
1989
Corpus ID: 12327252
A rare form of osteodysplasia could be diagnosed by prenatal sonographic screening. Characteristic for this rare type of…
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1985
1985
[Osteodysplasia or the Melnick-Needles syndrome; (apropos of a new case)].
B. Deleporte
,
J. P. Buissart
,
+6 authors
G. Fontaine
Journal de genetique humaine
1985
Corpus ID: 35123766
Osteodysplasty (Melnick and Needles syndrome) without facial dysmorphy in a 26 1/2 years old woman, mother of a normal 5 months…
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1980
1980
[A new case of osteodysplasia or Melnick-Needles syndrome].
C. Bérard
,
A. Chopard
,
J. Bérard
Pediatrie
1980
Corpus ID: 45988486
1973
1973
Precocious Type of Osteodysplasia
K. Kozłowski
,
V. Mayne
,
D. Danks
Acta radiologica: diagnosis
1973
Corpus ID: 33697965
Case I. Female infant aged 9 months admitted with pneumonia. She was the first child of healthy parents (father aged 33 and…
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1933
1933
Pleonosteosis
Edinburgh medical journal
1933
Corpus ID: 215035940
Pleonosteosis as its name implies is a fulness of bone growth in excess of the normal. This osteodysplasia was first described by…
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