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Cutaneous finger syndactyly
Known as:
Cutaneous syndactyly of fingers
, Cutaneous syndactyly of hands
, Webbed skin of fingers
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a…
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National Institutes of Health
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Related topics
Related topics
1 relation
Winter Shortland Temple syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome
F. Ahmad
,
A. Nasir
,
H. Thiele
,
Muhammad Umair
,
G. Borck
,
W. Ahmad
Annals of Human Genetics
2018
Corpus ID: 46817988
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and…
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2012
2012
Apert Syndrome with Fused Thalami
K. Ludwig
,
R. Salmaso
,
R. Manara
,
E. Cosmi
,
M. Baldi
,
M. Rugge
Fetal and Pediatric Pathology
2012
Corpus ID: 44399109
Apert syndrome (Acrocephalosyndactyly type I; AS) is a rare but well-known autosomal dominant disorder characterized by…
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2011
2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
J. Hurst
,
D. Jenkins
,
+9 authors
A. Wilkie
European Journal of Human Genetics
2011
Corpus ID: 13924877
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial…
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2011
2011
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.
G. Oǧur
,
M. Zenker
,
+4 authors
E. Malatyalıoğlu
Genetic Counseling
2011
Corpus ID: 1413309
Fraser syndrome is a rare autosomal recessive genetic disorder characterized by cryptophthalmus, variable expression of cutaneous…
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Review
2005
Review
2005
Report of a third family with Oliver syndrome
C. Salpietro
,
S. Briuglia
,
Graziella Bertuccio
,
L. Rigoli
,
R. Mingarelli
,
B. Dallapiccola
American Journal of Medical Genetics. Part A
2005
Corpus ID: 8901362
Isolated postaxial polydactyly is an autosomal dominant hereditary trait that can be a feature of more than 80 Mendelian or…
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2001
2001
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial…
N. Al-Sannaa
,
C. Forrest
,
A. Teebi
American journal of medical genetics
2001
Corpus ID: 44663144
We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia…
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2001
2001
Prenatal diagnosis of mosaicism for triploidy and trisomy 13
M. C. Phelan
,
R. Curtis Rogers
,
R. Michaelis
,
C. Lynn Moore
,
W. Blackburn
Prenatal Diagnosis
2001
Corpus ID: 44532936
Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies…
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1998
1998
Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.
T. Lukusa
,
J. Fryns
American journal of medical genetics
1998
Corpus ID: 22174491
We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22…
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1997
1997
The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.
D. Ioan
,
L. Dumitriu
,
V. Belengeariu
,
J. Fryns
Genetic Counseling
1997
Corpus ID: 22153325
We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings…
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1996
1996
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
S. von Gernet
,
S. Schuffenhauer
,
+6 authors
T. Meitinger
American journal of medical genetics
1996
Corpus ID: 43897251
We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected…
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