FAQ

De Sanctis-Cacchione syndrome

Known as: Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia, xerodermic idiocy, DeSanctis Cacchione syndrome 
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and… (More)

Topic mentions per year

Topic mentions per year

1965-2017
012319652017

Related topics

Related topics

4 relations

Broader (4)

DwarfismHypogonadismIntellectual DisabilityXeroderma Pigmentosum

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
De Sanctis-Cacchione syndrome
Dwarfism
Intellectual Disability
Hypogonadism
Xeroderma Pigmentosum

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been… (More)
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2014
2014
Xeroderma Pigmentosum/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia
INTRODUCTION Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million… (More)
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2013
2013
De Sanctis-Cacchione Syndrome in a female infant - Case report*
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly… (More)
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2005
2005
[De Sanctis-Cacchione syndrome].
We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas… (More)
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1991
1991
Epibulbar squamous cell carcinomas in brothers with Xeroderma pigmentosa.
We report two brothers aged 6.6 and 5 years old with the De Sanctis-Cacchione variant of Xeroderma Pigmentosa. They had typically… (More)
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1989
1989
[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome].
Multi-modality evoked potentials in two cases, who were siblings, of De Sanctis-Cacchione syndrome were reported. The case 1, who… (More)
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1986
1986
[De Sanctis-Cacchione syndrome. Apropos of 2 cases].
We report two cases of xeroderma pigmentosum (XP), with neurologic alterations, representing a partial, although not complete… (More)
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1981
1981
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione syndrome
The normal senescent fibroblasts in culture accumulate a significantly high proportion of altered enzymes, and the alterations… (More)
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1981
1981
[De Sanctis-Cacchione syndrome--a case report].
 
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1978
1978
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome).
Computed tomography (CT) scans in two young patients with xeroderma pigmentosum with neurologic manifestations (De Sanctis… (More)
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