Overgrowth syndrome in neonates: a rare case series with a review of the literature

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeleta...

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Bibliographic Details
Published in:BMJ case reports 2019-01, Vol.12 (1), p.e225640
Main Authors: Pandita, Aakash, Panghal, Astha, Gupta, Girish, Naranje, Kirti M
Format: Article
Language:English
Subjects:
Abdomen
Birth weight
Blood clots
Blood tests
Case reports
Colonoscopy
Congenital Abnormalities - diagnostic imaging
Congenital diseases
Disease Management
Humans
Infant, Newborn
Intensive care
Klippel-Trenaunay-Weber Syndrome - diagnostic imaging
Literature reviews
Male
Musculoskeletal Abnormalities - diagnostic imaging
Mutation
Neonatal care
Nevus - diagnostic imaging
New Disease
Newborn babies
Patients
Pediatrics
Port-Wine Stain - diagnostic imaging
Scoliosis
Thrombosis
Ultrasonic imaging
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Summary:We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Both the neonates are doing well and are under regular follow-up.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2018-225640