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Brachycephaly
Premature closing of both sides of the coronal sutures.
National Institutes of Health
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Related topics
Related topics
50 relations
3C syndrome
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AMINOPTERIN SYNDROME SINE AMINOPTERIN
Acrofrontofacionasal dysostosis syndrome
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Grace J. Noh
,
J. Graham
European Journal of Medical Genetics
2012
Corpus ID: 21613529
Highly Cited
2009
Highly Cited
2009
Evolution in the frequency of nonsyndromic craniosynostosis
F. Rocco
,
E. Arnaud
,
D. Renier
2009
Corpus ID: 207677035
21 Craniosynostoses are defined as the result of abnormal calvarial development associated with a premature fusion of ≥ 1 cranial…
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Review
2005
Review
2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G. McGillivray
,
R. Savarirayan
,
+7 authors
S. Lamandé
Journal of Medical Genetics
2005
Corpus ID: 26477839
Characteristic deformities of skull shape occur as a result of different patterns of sutural fusion, while compen- satory skull…
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2005
2005
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1
D. Koolen
,
N. Knoers
,
+5 authors
B. Vries
European Journal of Human Genetics
2005
Corpus ID: 11351057
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription…
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2004
2004
Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation
I. Rost
,
H. Fiegler
,
+9 authors
M. Speicher
Journal of Medical Genetics
2004
Corpus ID: 6552979
Down’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and…
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2003
2003
Intracranial migration of fixation wires following correction of craniosynostosis in an infant.
M. Kosaka
,
Toshio Miyanohara
,
Yoshitaka Wada
,
H. Kamiishi
Journal of cranio-maxillo-facial surgery…
2003
Corpus ID: 40288192
2002
2002
Prenatal diagnosis of the Dandy‐Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
Chih-ping Chen
,
Tung-Yao Chang
,
+7 authors
C. Tzen
Prenatal Diagnosis
2002
Corpus ID: 22303317
To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion.
Review
1993
Review
1993
Lack of ossification after cranioplasty for craniosynostosis: a review of relevant factors in 592 consecutive patients.
M. Prévot
,
D. Rénier
,
D. Marchac
The Journal of craniofacial surgery (Print)
1993
Corpus ID: 33131300
1989
1989
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.
Charles A. Williams
,
J. Hendrickson
,
Eduardo S. Cantú
,
T. A. Donlon
American journal of medical genetics
1989
Corpus ID: 7405741
We report on a 4-year-old girl with Angelman syndrome who has an apparent de-novo del(15) (q11q13) originating from a maternally…
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1977
1977
Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.
J. Friedman
,
James W. Hanson
,
C. Graham
,
David W. Smith
Jornal de Pediatria
1977
Corpus ID: 71960526
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