Dear Colleague,  
I see today in genetic consultation the child Eddy LONDOIS born on 15/04/2010, accompanied by his two parents, Mr. Johnny LONDOIS aged 40 years and his mother Marie DUPONT aged 25 years, for a suspicion of familial Marfan syndrome.  
Eddy is part of a sibling group of 3, including a half-brother on the paternal side, Mitchell born on 05/05/2008, for whom we do not have medical information (no more contact with the father). His sister Brenda born on 15/12/2013 is apparently in good health; she is not present during the consultation.  
Regarding the two parental branches:  

On the maternal side:  
Mrs. DUPONT measures 165 cm, has no significant medical antecedents. She has an older sister in good health who herself has 2 children in good health. There are no contributory antecedents in this informative branch.  

On the paternal side:  
Mr. LONDOIS has no particular medical antecedents, except for a few sprains in his youth while playing basketball. He has no particular ophthalmological or cardiac antecedents (no record of TTE). He currently works as an event manager for the CSP club in Limoges.  
Mr. LONDOIS is an only child. His mother presents the association of myopia, a long-limbed morphotype, and dilation of the aortic root detected following an episode of malaise. Ginette has two brothers and one sister who also have children but have not been in contact with Mr. LONDOIS for several years.  
Upon examination, Mr. LONDOIS presents a long-limbed morphology with a height of 189 cm with an arm span of 195 cm, giving an A/H ratio of 1.03. W: 65 kg, HC: 54 cm. Skeletally, I observe that he presents an asymmetric thorax with asymmetric pectus excavatum, a kyphosis without frank gibbus. He has long, thin fingers without signs of thumb or wrist. His toes are long without deformity of the hindfoot, wearing size 46. The skin, oral, and cardiovascular examinations are unremarkable.  

Regarding Mr. Johnny LONDOIS:  
Given the family history, the diagnosis of Marfan syndrome can be strongly suspected in him. I prescribe to complete the assessment:  
- An echocardiogram with measurement of the aortic root at the sinus of Valsalva.  
- An ophthalmological examination to look for lens ectasia.  

Regarding Eddy:  
Pregnancy without particularities, with normal follow-up ultrasounds. Born at 38 weeks GA with measurements within the norms for gestational age: W: 3500 g, L: 50 cm, HC: 34.2 cm, Apgar scores of 9-10-10.  
Psychomotor development is entirely normal: walking at 13 months, no delay in language. He is currently in 5th grade without academic difficulties.  
He has worn glasses for myopia since the age of 5. He has had several sprains and wears orthopedic insoles. No particular cardiac antecedents.  

On clinical examination: Long-limbed morphology with H: 170 cm (+4 SD), A: 179 cm, giving an A/H ratio of 1.05 (dolichostenomelia). W: 60 kg, HC: 53 cm.  
Skeletally: The fingers are long and thin with positive signs of thumb and wrist bilaterally indicating arachnodactyly. The feet are long and thin, as well as the toes. He wears size 42. I note no pectus excavatum or carinatum. The spine is straight.  
No dermatological anomalies or abnormalities on cardiac auscultation.  
Given the association of statural advancement, early myopia, and skeletal signs, I believe we can make a clinical diagnosis of Marfan syndrome in Eddy.  
I complete the assessment for him with:  
- An ophthalmological consultation, followed by regular monitoring.  
- A cardiological consultation with TTE to measure the aortic root and discuss the interest of introducing beta-blocker treatment.  
- An orthopedic follow-up.  
Finally, we discuss the interest of analyzing the genes involved in Marfan syndrome and related conditions, the implications in case of a positive molecular result. They agree to carry out this analysis.  
I collect samples today from Eddy and his two parents; I will not fail to inform when the results are available.  

In the meantime, I remain at the family's disposal for any additional information.  

Best regards.