Dear Colleague,
I met in consultation the child Ausilia RUSSO, born on 22/02/2024, for genetic advice regarding macroglossia. She came to the consultation accompanied by her two parents. 
She is the third child in a sibling group of three. Her older sister, born in 2019, and her older brother, born in 2022, are in good health. There are no reported particular family antecedents. 
The combined first-trimester screening for Down syndrome showed a risk of 1 in 69. The non-invasive prenatal diagnosis returned negative for trisomy 13, 18, and 21. 
She was born at 41 weeks of amenorrhea by cesarean section with a weight of 3550 g (61st p.), a height of 51 cm (67th p.), and a head circumference of 35 cm (61st p.). She presented good adaptation to extrauterine life. The otoacoustic emissions were positive at birth. 
Feeding with artificial milk is going well with satisfactory weight gain. 
She did not present hypoglycemia during the neonatal period. 
An abdominal-pelvic ultrasound was performed; this ultrasound was normal. 
Clinical examination today (2 months): weight 5000 g (M), height 59 cm (+1 SD), head circumference 38 cm (M). Macroglossia with tongue protrusion. Small preauricular chondroma on the right. Good axial and peripheral tone. The head passes the axis when sitting. Primitive reflexes present. Cardiopulmonary auscultation normal, femoral pulses present and symmetrical. Abdominal palpation normal without hepatosplenomegaly, without palpable mass. Small flat angioma on the upper lip. She presents a linear fold on the left anterior lobe. No umbilical hernia or diastasis of the rectus muscles. No body asymmetry. 
The clinical score does not allow for a clinical diagnosis of Wiedemann-Beckwith syndrome (clinical score = 3). Blood sampling today sent for molecular analysis of the methylation of the 11p15 region. 
Prescription given for abdominal-renal ultrasound every 3 months to search for nephroblastoma or visceromegaly while awaiting the result. 
I will contact the parents with the results of the genetic analysis, which should be available in several months. 
I remain at your disposal for any further information and please accept the expression of my best regards.