Dear Colleague,  
I meet today the child Anon LOUKA, born on 15/02/2016, aged 9 years and 3 months, as part of a global developmental delay associated with morphological particularities.  
Anon is the 2nd child in a sibling group of 3, with an older brother and a younger sister, both in good health. There is no history of spontaneous miscarriage in the mother, and the parents are not related.  

Regarding the maternal side:  
Mrs. Jane LOUKA was born on 03/05/1985, measures 175 cm, and weighs 85 kg. She is an only child. She works as a cattle breeder. She has no notable antecedents except for a childhood in Limousin. Her mother is being monitored for insulin-dependent diabetes, and her father for advanced liver cirrhosis as a consequence of chronic alcoholism. No other notable antecedents in this branch.  

Regarding the paternal side:  
Mr. John LOUKA, born on 06/09/1980, measures 160 cm and weighs 55 kg, had a normal education and has good socio-professional integration. I note no morphological particularity otherwise. He is the oldest of a sibling group of 5, all in good health, and his parents are also in good health. He mentions a cousin with intellectual disability who is being cared for in a Medico-Educational Institute.  

Regarding Anon:  
The pregnancy proceeded normally, with no notion of tobacco or medication intoxication. The follow-up ultrasounds were unremarkable except for a doubt about an unconfirmed hydrocele. There is no note of IUGR.  
Delivery at 37+2 weeks GA, assisted by VE (Vacuum Extraction). BW: 2850 g, L: 45.5 cm, HC: 33 cm. Apgar 8-10. The neonatal examination was seemingly unremarkable.  
Gradually, it is noted that Anon has a delay in motor acquisitions.  
At 21 months: Did not acquire independent walking, can move by gripping. Stable sitting position. Babbling is present, no words.  
Steady growth with a slowing of weight and height curves, resulting in a drop of one growth channel. Currently, W: 10 kg (−1.5 SD), L: 75 cm (−1.5 SD as well). HC: 48.5 cm, which is at the average.  
During the morphological examination, I note the presence of well-developed frontal bosses, the palpebral fissures are oblique downward and outward, the ears are low-set with posterior rotation, there is telecanthus, his palate is very ogival, the teeth are well-implanted, the philtrum is flat and short. The external genitalia, skin covering, and extremities are without particularities.  
The association of delayed acquisitions, growth slowdown, and morphological particularities allows me to evoke a RASopathy. I therefore propose to complete the assessment with:  
- An echocardiogram to look for possible pulmonary artery stenosis/HCM  
- A biological assessment with CBC + platelets  

I explain the consent for the analysis of constitutional genetic characteristics and the implications in case of a positive result. They agree to carry out an analysis by panel of genes involved in RASopathies, which we can complete with other examinations at a later stage.  
Best regards.