Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies
Sign Up to like & getrecommendations! Published in 2020 at "Case Reports in Dentistry"
DOI: 10.1155/2020/8826945
Abstract: Background Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene. Aim To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes. Design Gingival… read more here.
Keywords: overgrowth syndromes; mosaicism; gingival biopsy; megalencephaly capillary ... See more keywords
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-17-0710
Abstract: A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop… read more here.
Keywords: risk; overgrowth syndromes; recommendations children; surveillance recommendations ... See more keywords
The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes
Sign Up to like & getrecommendations! Published in 2022 at "Vascular Health and Risk Management"
DOI: 10.2147/vhrm.s358849
Abstract: Abstract The Klippel-Trénaunay syndrome is an unusual syndrome of vascular and dermatologic manifestation in which patients demonstrate hemihypertrophy of the soft tissue and bones of one limb, cutaneous haemangiomas and varicosities in anatomically abnormal positions.… read more here.
Keywords: limb; overgrowth syndromes; klippel naunay; gene ... See more keywords