Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

Arch Dis Child Educ Pract Ed. 2019 Apr;104(2):97-98. doi: 10.1136/archdischild-2017-314021. Epub 2018 Feb 28.

Authors

Grazia Morandi¹, Claudia Piona¹, Daniela Degani¹, May El Hachem², Nicoletta Resta³, Carmela Richelli⁴, Silvana Lauriola⁴

Affiliations

¹ Unit of Pediatrics, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
² Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
³ Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro University of Bari, Bari, Italy.
⁴ Neonatal Unit, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

PMID: 29490900
DOI: 10.1136/archdischild-2017-314021

No abstract available

Keywords: differential diagnosis; neonatal malformations; pik3ca-related overgrowth spectrum (pros) disorder.

Publication types

Case Reports

MeSH terms

Class I Phosphatidylinositol 3-Kinases / genetics
Exons
Female
Foot Deformities, Congenital / genetics
Foot Deformities, Congenital / pathology
Heterozygote
Humans
Hydronephrosis / diagnostic imaging*
Infant, Newborn
Magnetic Resonance Imaging
Mutation
Polydactyly / genetics
Polydactyly / pathology
Toes / abnormalities
Ureteral Diseases / diagnostic imaging*
Vascular Malformations / diagnostic imaging*
Vascular Malformations / genetics
Vascular Malformations / pathology*

Substances

Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human

Supplementary concepts

Macrodactyly of the foot