Limits...
Syndrome in question. Costello syndrome.

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB - An Bras Dermatol (2014 Nov-Dec)

Bottom Line: Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects.There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease.We report a case with characteristic phenotype, highlighting the peculiar skin changes.

View Article: PubMed Central - PubMed

Affiliation: Amazonas Federal University, Manaus, AM, Brazil.

ABSTRACT
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.

Show MeSH

Related in: MedlinePlus

Typical facies found on the syndrome in question. Note epicanthic fold, downwardslant of palpebral fissure, wide nose, thickened earlobe, large lips, marked frontalpleats with aspect of redundant skin
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4230678&req=5

f01: Typical facies found on the syndrome in question. Note epicanthic fold, downwardslant of palpebral fissure, wide nose, thickened earlobe, large lips, marked frontalpleats with aspect of redundant skin


Syndrome in question. Costello syndrome.

Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB - An Bras Dermatol (2014 Nov-Dec)

Typical facies found on the syndrome in question. Note epicanthic fold, downwardslant of palpebral fissure, wide nose, thickened earlobe, large lips, marked frontalpleats with aspect of redundant skin
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4230678&req=5

f01: Typical facies found on the syndrome in question. Note epicanthic fold, downwardslant of palpebral fissure, wide nose, thickened earlobe, large lips, marked frontalpleats with aspect of redundant skin
Bottom Line: Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects.There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease.We report a case with characteristic phenotype, highlighting the peculiar skin changes.

View Article: PubMed Central - PubMed

Affiliation: Amazonas Federal University, Manaus, AM, Brazil.

ABSTRACT
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.

Show MeSH
Related in: MedlinePlus