Dear Colleague,  
I am seeing today (25/07/2023) the child Mathilde MOVEGENE born on 06/06/1999 as part of an assessment for a young girl presenting with a language delay fitting into a broader developmental delay and obesity.  
She is the 4th child in a sibling group of 5, with two older brothers and two sisters currently in good health. There is no history of consanguinity or miscarriage in the couple.  

On the paternal side:  
The father, Mr. Paolo MOVEGENE born on 05/10/1967 is in good health. He is 1.70 m tall. He is an only child, but his mother lost a male fetus at 25 GA, who was diagnosed with IUGR and complex skeletal malformations.  
Both parents of Mr. MOVEGENE are deceased, and we do not have data regarding their health status or the causes of death. However, there is a notion that first-degree cousins are being monitored for language delay with schooling in a specialized center, without further details.  

On the maternal side:  
The mother, Mrs. Vespa MOVEGENE born GAYET on 25/06/1975 is in good health, measures 1.60 m. She is the 2nd child in a sibling group of 4 without notable antecedents. There is no contributory family history.  

Regarding Mathilde, the pregnancy was uneventful, with no substance or medication use, and the follow-up ultrasounds were normal. The delivery occurred at term at 40 GA, with normal measurements at birth: BW = 4.40 kg, BL = 52.5 cm, HC = 35 cm. There were no significant health events during the neonatal period, notably no notion of hypotonia.  
The evolution of psychomotor skills has been delayed, with walking acquired at 18 months and no language at the age of 3. She also had moderate learning difficulties, which justified schooling in a Special Education class and currently has a file in a SSP.  
Furthermore, in terms of growth parameters, she has evolved with overweight between +6 and +7 SD, a height at +1.5 SD, and a head circumference also at +1.5 SD. Puberty has occurred normally. There is no history of malformations or surgical interventions in this young girl. No notion of auditory or ophthalmological disorders, no notion of epilepsy or sleep disorders.  
On examination today, her weight is 55.5 kg, which is +7 SD, for a height of 154.5 cm, which is +1.5 SD, and the head circumference is normal. I do not identify any extremely significant morphological traits; she resembles her mother a lot. There are no anomalies of the mouth, hair, skin. No anomalies of the extremities, notably no hexadactyly. The spine is straight. Abdominal palpation does not reveal any masses or organomegaly.  

Given this picture of learning difficulties associated with pediatric obesity, we will complete the assessment with:  
- a cerebral MRI  
- An ophthalmological examination to look for retinal pathology  
After informing the parents, I retain the indication for a pan-genomic examination to search for small stature imbalances (ACPA by CGH array). They are informed of the implications of such an examination and consent to its realization.  

I will keep the family informed of the results, which will be available in a few months.  

Best regards.