Dear colleague,  
With Dr. IDRIS, neurologist, we met in consultation with Mr. Miles HENDERSON, born on 30/07/1995, accompanied by his mother for a neurogenetic opinion due to the association of a neurodevelopmental disorder, morphological particularities, and diabetes.  
He is the only child of a non-consanguineous couple but from two relatively close small villages.  
Regarding this young man, we note the following points:  
- A pregnancy under Depakine due to a history of epilepsy, which was quickly stopped in the first trimester as soon as the mother learned she was pregnant.  
- A cesarean delivery with, as you specify, normal measurements, an Apgar score of 8/9, followed by respiratory distress requiring oxygen, which was quickly resolved.  
- Initially, no difficulties in his psychomotor development, other than being described as clumsy. He had a relatively classic school path until 5th grade and then was directed to IEP until 9th grade. Writing and reading have been acquired. He now works in a supported employment program and lives in a group home.  
- Additionally, he developed behavioral disorders likely within the framework of a pervasive developmental disorder.  
- Medically, we note a growth deficit that justified treatment with growth hormone in childhood and adolescence. He was discovered to have diabetes in April 2020, which is currently non-insulin requiring and treated with STAGID.  
At the examination today, we indeed note these small morphological particularities with an impression of muscular hypertrophy, quite marked in the trunk but also in the calves. There is a trunk-limb disproportion with shorter lower limbs and relatively short hands. A supernumerary nipple is noted on the left. The neurological examination is perfectly normal.  
Weight is 85 kg for a height of 1.65 m and a head circumference of 56.5 cm.  
In summary, it seems pertinent to continue investigations by proposing:  
- A CPK dosage (which returned normal)  
- Skeletal X-rays for which a prescription has been given.  
- An ACPA to ensure the absence of underlying chromosomal imbalance.  
- If ACPA is normal, then we should propose the realization of an exome in trio with a blood sample from each of the parents.  
Of course, I will inform you of the results as well as the family in a few months.  
In the meantime, please keep me updated on the evolution of this young man.  
Best regards.