Dear Colleague,  
We met in a joint consultation with Dr. GRAY, a pediatric neurologist, the little JAMIESON Leanna, aged 18 months, accompanied by her two parents.  
Reviewing the family history, we note that Leanna has an older sister Chloe born on 13/10/2009 who is currently repeating her Grade 1 with speech therapy support. She has also benefited from the placement of TT. She was born with a birth weight of 2.75 kg.  
The father has 2 brothers and 1 sister, for whom he does not report any academic difficulties. They have all had children who are doing well as well. Her father passed away from lung cancer. Her mother is in good health.  
Leanna's mother was adopted, so we do not have information about her family history. She also experienced academic difficulties with schooling in an SELC. She cannot read or write.  
Regarding Leanna, she was born at 38 GA with a birth weight of 2.95 kg (44th p), height: 47.5 cm (33rd p), HC: 34 cm (58th p), Apgar: 10/10. It seems that the ultrasounds were unremarkable, no maternal fever, no intoxications during pregnancy. Delivery was vaginal.  
In the first months of life, it seems that feeding was difficult, requiring stimulation. Leanna also presented with GER.  
She is receiving outpatient physiotherapy and currently can sit up and get into a sitting position on her own for a short time. She crawls, turns in circles, and grabs her feet. She shows interest in other children, and interactions are going well. She is starting to say small syllables ("ba," "ta"). There are no issues with interactions.  
In terms of examinations, aside from the cardiac ultrasound, an ophthalmological assessment is planned for this winter.  
At the clinical examination today (18 months), she measures 77 cm (-1 SD) with a weight of 9 kg (-1 SD), and a PC of 47 cm (+1 SD). There is no very obvious dysmorphia. She presents with pale skin, very light blonde hair, and blue eyes, which is not the case for her parents. She exhibits hyperlaxity. In a sitting position, she still shows slight kyphosis. No obvious scoliosis. No umbilical nipples. The DTR are present and symmetrical. The parachute reflexes are also well present.  
Discussion and conclusion:  
We meet today with Leanna, aged one and a half, who presents a delay in motor skills acquisition, knowing that she is still very young.  
We therefore propose to conduct a chromosomal examination using an DNA chip. If this examination is normal, an examination for fragile X syndrome will be performed systematically.  
Kind regards.