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Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Known as:
FROSTER SYNDROME
National Institutes of Health
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Related topics
Related topics
15 relations
Abnormality of limbs
Autosomal recessive inheritance
Clinodactyly of the 5th finger
Congenital malrotation of intestine
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Broader (4)
Bone Diseases, Developmental
Bone structure of cranium
Limb Deformities, Congenital
Respiratory Diaphragm
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Encephalocele—radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?
C. M. Valdez
,
S. Altmayer
,
+4 authors
R. Rosa
American Journal of Medical Genetics. Part A
2014
Corpus ID: 24084869
The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described…
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Review
2011
Review
2011
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q
Amy M. Breman
,
F. Probst
,
+5 authors
S. Cheung
American Journal of Medical Genetics. Part A
2011
Corpus ID: 21956261
TO THE EDITOR: Most cases of Edwards syndrome result from an extra copy of chromosome 18 (Trisomy 18) [Edwards et al., 1960…
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2010
2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L. Desmyter
,
M. Ghassibé
,
+35 authors
M. Vikkula
Molecular Syndromology
2010
Corpus ID: 24837270
Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip…
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Review
1992
Review
1992
Two cases of isolated deficiency of all four limbs diagnosed antenatally with a review of the literature.
W. Wong
,
O. Clarke
,
J. Bhattacharya
,
L. Macdonald
British Journal of Radiology
1992
Corpus ID: 40826190
Congenital absence of a limb (amelia) is extremely rare with an incidence ranging from between 0.05 to 0.15 per 10000 live births…
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1991
1991
A new PstI polymorphism between VK21 and St14 in Xq28 (DXS523).
S. Kenwrick
,
P. Bridge
,
D. Lillicrap
,
J. Bainton
,
J. Gitschier
Nucleic Acids Research
1991
Corpus ID: 39652276
References: l)Nussbaum,R.L., Airhart,S.D. and Ledbetter.D.H. (1986) Am. J. Med. Genet. 23, 457-466. 2)Patterson,M.N., Bell,M.V…
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