Dear Colleague, Dear Colleague,
I met at the request of Dr. FOUST in consultation the child Michael HOLBROOK, born on 15/11/2015, accompanied by his mother, Mrs. HOLBROOK, for advice regarding a probable Down syndrome. 
He is the second child in a sibling group of three. His parents and siblings are in good health and are not related. The family recently arrived from Georgia. 
Mrs. HOLBROOK indicates that Michael's father is heterozygous for cystic fibrosis. There do not seem to be any known family antecedents of Down syndrome or other developmental anomalies. 
Michael was born prematurely at 35 GA with a weight of 1950 g (9th p). 
On the cardiological side, an ostium secundum ASD with pericardial effusion and impact on the right cavities was diagnosed by Dr. FOUST recently in the context of an evaluation of a heart murmur. Effort dyspnea has been reported since always without other cardiological symptoms. 
A blood biological assessment was performed on March 8 at the Rennes University Hospital and showed: normal blood ionogram, normal TSH, increased creatinine at 92 μmol/l, satisfactory blood count but a slight leukopenia at 4000 leukocytes/mm³. 
Michael presents an intellectual developmental disorder associated with an autism spectrum disorder. 
Mrs. HOLBROOK indicates that Michael is being followed at the CAMH and that psychomotor therapy should begin soon. For now, Mrs. HOLBROOK is looking for a private professional for speech therapy follow-up. He is awaiting a place in SELC. 
He has been enrolled in elementary school since last fall in Grade 3 for 3 half-days a week, with a SEA. 
Clinical examination today: 
Weight 44 kg (97th percentile), height 142 cm (+1 SD), HC 50.5 cm (-1.5 SD). 
Facial features evocative of Down syndrome with notably palpebral fissures oriented upward and outward and a flat neck. No anomalies of the extremities. No gibbus on spine examination. Neurological examination normal: no pyramidal syndrome or cerebellar syndrome. Dry skin. 
In total, Michael presents an intellectual developmental disorder associated with an autism spectrum disorder likely linked to Down syndrome. Karyotype requested today for confirmation and to specify the mechanism of occurrence. 
Additional examinations are to be planned in the case of the malformative assessment, and I am organizing them at the Rennes University Hospital. 
I will keep you informed of the karyotype result and these imaging examinations when they are performed. 
I remain at your disposal for any further information and please accept the expression of my best regards.