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Congenital Epicanthus
Known as:
EPICANTHUS
, Epicanthal fold
, Epicanthic folds
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A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus…
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National Institutes of Health
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Related topics
Related topics
10 relations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
Hypoglossia-Hypodactylia
LYMPHEDEMA, HEREDITARY, III
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.
L. Schibler
,
E. Cribiu
,
A. Oustry-Vaiman
,
J. Furet
,
Daniel Vaiman
Genome Research
2000
Corpus ID: 6083209
To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This…
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1994
1994
Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia
K. A. Ward
,
C. Moss
British Journal of Dermatology
1994
Corpus ID: 19968844
Summary A healthy 14‐month‐old boy had multiple, circular, scar‐like depressions on both temples, which had been present since…
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1991
1991
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3
S. Roberts
,
H. Hughes
,
S. Davies
,
A. Meredith
Journal of Medical Genetics
1991
Corpus ID: 27926833
A case of bilateral split hand and split foot malformation is reported in a boy with a complex rearrangement of chromosome 7…
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1991
1991
A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
A. Delicado
,
Eva Escribano
,
I. L. Pajares
,
Arantxa Diaz
,
Sira Carrasco
Journal of Medical Genetics
1991
Corpus ID: 1689758
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital…
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Review
1988
Review
1988
Infantile sialic acid storage disease associated with renal disease.
S. Pueschel
,
P. O'shea
,
+4 authors
E. Kolodny
Pediatric Neurology
1988
Corpus ID: 22931893
Review
1985
Review
1985
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
W. Dobyns
,
G. Dewald
,
R. O. Carlson
,
D. Mair
,
V. Michels
American journal of medical genetics
1985
Corpus ID: 45264931
The clinical manifestations and cytogenetic changes of a patient with 46,XY,del(8)(p21.1) are compared with those of nine other…
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1985
1985
Deletion of the distal long arm of chromosome 1: a definable syndrome.
V. P. Johnson
,
L. J. Heck
,
G. Carter
,
J. O. Flom
American journal of medical genetics
1985
Corpus ID: 41986631
Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations…
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1981
1981
Ring chromosome 14: a distinct clinical entity.
Lydia Eviatar
,
M. Harold
,
Nitowsky
,
Martha
,
Wong
Journal of Medical Genetics
1981
Corpus ID: 18158412
An infant girl with ring chromosome 14 is presented. The findings in this patient and in six previously reported cases of a ring…
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1981
1981
Eyeground malformations in the fetal alcohol syndrome.
K. Strömland
Birth defects original article series
1981
Corpus ID: 32875612
The fetal alcohol syndrome (FAS) occurs in children born by alcoholic mothers. The syndrome consists of growth deficiency of…
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Highly Cited
1978
Highly Cited
1978
Partial Trisomies and Deletions of Chromosome 13
R. Coco
,
G. Rey
Pediatric Research
1978
Corpus ID: 46261086
With the advent of new banding techniques there have been increasing numbers of patients with trisomies and deletions for…
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