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2-3 toe cutaneous syndactyly
Known as:
Webbed skin of 2nd-3rd toes
, Syndactyly, toes 2-3
, Cutaneous syndactyly (toes 2-3)
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Syndactyly with fusion of toes two and three. [HPO:sdoelken]
National Institutes of Health
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Related topics
Related topics
17 relations
ADAMS-OLIVER SYNDROME 3
Burn-Mckeown syndrome
Cornelia De Lange Syndrome
Corpus callosum agenesis neuronopathy
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett‐like features
C. Pescucci
,
I. Meloni
,
+7 authors
A. Renieri
Clinical Genetics
2003
Corpus ID: 18214063
We present here a unique case of a 14‐year‐old female with autism and some features similar to Rett syndrome (RTT). Genetic…
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2003
2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
M. Digilio
,
B. Marino
,
A. Giannotti
,
B. Dallapiccola
,
John M Opitz
Birth defects research. Clinical and molecular…
2003
Corpus ID: 36336254
BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and…
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Review
2000
Review
2000
Ring chromosome 22 and autism: report and review.
J. MacLean
,
I. Teshima
,
P. Szatmari
,
M. Nowaczyk
American journal of medical genetics
2000
Corpus ID: 32719893
Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long…
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Highly Cited
1999
Highly Cited
1999
Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
A. Slavotinek
,
C. Schwarz
,
J. Getty
,
O. Stecko
,
F. Goodman
,
H. Kingston
American journal of medical genetics
1999
Corpus ID: 22974392
We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3…
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1990
1990
Cholesterol embolization: clinical findings and implications.
H. Rosman
,
T. Davis
,
D. Reddy
,
S. Goldstein
Journal of the American College of Cardiology
1990
Corpus ID: 6891968
1990
1990
Three cases of syndactyly, polydactyly, and hypoplastic triphalangeal thumb: (Haas's malformation).
T. Miura
,
R. Nakamura
,
E. Horii
,
H. Sano
Journal of Hand Surgery-American Volume
1990
Corpus ID: 29814106
1990
1990
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.
S. Parnes
,
A. Hunter
,
C. Jimenez
,
B. Carpenter
,
I. MacDonald
American journal of medical genetics
1990
Corpus ID: 6228100
A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a…
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Review
1983
Review
1983
Congenital scalp defect with distal limb anomalies: brachydactyly and hypoplastic toes.
J. E. Hidalgo
,
D. M. Greer
,
D. W. Johnston
Plastic and Reconstructive Surgery
1983
Corpus ID: 32729774
A case report of a congenital scalp defect with distal limb anomalies is presented. Etiology, associated anomalies, treatment…
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Review
1981
Review
1981
Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome.
C. Yu
,
H. Chen
,
R. Baucum
,
A. Hand
Annales de Genetique
1981
Corpus ID: 28453839
Using Q banding technique we recently identified a terminal deletion of the distal segment of the long arm of chromosome 4 in a…
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1974
1974
A syndrome of polydactyly‐syndactyly and triphalangeal thumbs in three generations
Osvaldo Yujnovsky
,
Dante Ayala
,
A. Vincitorio
,
Hercules Viale
,
N. Sakati
,
W. Nyhan
Clinical Genetics
1974
Corpus ID: 31928306
A syndrome has been observed in four individuals in three generations in which there is polydactyly and syndactyly of the hands…
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