TY - JOUR
T1 - Limb hypertrophy
T2 - a skin vascular malformation and bilateral hydroureteronephrosis in a neonate
AU - Morandi, Grazia
AU - Piona, Claudia
AU - Degani, Daniela
AU - El Hachem, May
AU - Resta, Nicoletta
AU - Richelli, Carmela
AU - Lauriola, Silvana
N1 - © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
PY - 2018/2/28
Y1 - 2018/2/28
N2 - The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v2/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation. QUESTIONS 1: What investigations would you think of in a baby with limb hypertrophy and a vascular malformation? Limb X-rays followed by abdominal and limb CT scanLimb muscles and soft tissues MRIKidney and limb ultrasound followed by abdominal and limb CT scanThigh, leg and abdominal MRI and in second instance brain MRIThigh, leg and abdominal CT scan and brain MRI. QUESTIONS 2: Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?Neurofibromatosis type ISotos syndromeBeckwith-Wiedemann syndromeMadelung's diseasePIK3CA-related overgrowth spectrum (PROS) disorder. Answers to the questions are on page 02 Answers to the questions on page 1.
AB - The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v2/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation. QUESTIONS 1: What investigations would you think of in a baby with limb hypertrophy and a vascular malformation? Limb X-rays followed by abdominal and limb CT scanLimb muscles and soft tissues MRIKidney and limb ultrasound followed by abdominal and limb CT scanThigh, leg and abdominal MRI and in second instance brain MRIThigh, leg and abdominal CT scan and brain MRI. QUESTIONS 2: Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?Neurofibromatosis type ISotos syndromeBeckwith-Wiedemann syndromeMadelung's diseasePIK3CA-related overgrowth spectrum (PROS) disorder. Answers to the questions are on page 02 Answers to the questions on page 1.
U2 - 10.1136/archdischild-2017-314021
DO - 10.1136/archdischild-2017-314021
M3 - Article
C2 - 29490900
JO - Archives of Disease in Childhood: Education and Practice Edition
JF - Archives of Disease in Childhood: Education and Practice Edition
SN - 1743-0585
ER -