Dear Colleague,
I met today in consultation the young VROCE Valeria born on 06/01/2024, accompanied by her parents, for Pierre Robin sequence. 
On the family side, her father, Mr. VROCE, was born on 16/09/1994 and is a teacher. No notable antecedents in his family branch. Her mother, Mrs. VROCE, was born on 24/07/1995; she reportedly had hearing loss in childhood due to recurrent otitis with good recovery today. No particular antecedents in her family branch. 
Regarding Valeria, she is the first child of a non-related couple. 
The pregnancy was spontaneous and proceeded physiologically. No consumption of toxic substances or other particular events during the pregnancy. Valeria was born at 39 GA during a vaginal delivery triggered by decreased fetal active movements. Birth weight was 2600g (5th p.), height 45 cm (1st p.), and head circumference 33.5 cm (32nd p.). Apgar scores were 6/8/10. At 4 hours of life, the onset of peribuccal cyanosis necessitated Valeria's transfer to neonatology. 
On the respiratory side, episodes of malaise with apnea and cyanosis due to glossoptosis and retrognathism required respiratory assistance during her stay in neonatal intensive care. 
On the ENT side, no palatine cleft was visualized, and bilateral AEP were conclusive. Major backward tilting of the epiglottis on a picture of laryngomalacia explains the desaturation episodes. 
On the ophthalmological side, no strong myopia or other anomalies evocative of Stickler syndrome were found. Doubts about possible hypertelorism. 
On the feeding side, difficulties with sucking and swallowing with regurgitations led to feeding via a nasogastric tube. 
The association of these different symptoms poses the diagnosis of Pierre Robin sequence. 
Today, I meet Valeria in the context of her hospitalization in neonatology. 
On clinical examination today (11 days), Valeria measures 47 cm, weighs 2750 g, HC of 33.5 cm. 
Cardiopulmonary auscultation is unremarkable, the abdomen is soft, depressible, and painless. Good tone, reflexes present in all four limbs and symmetrical, no Babinski sign. I note indeed retrognathism, a left ear slightly low-set and less well-formed than the right, as well as hypertelorism. Small sacral dimple. No anomalies of the extremities. 
On the genetic side, I explain to Valeria's parents that we can start genetic analyses by performing a CGH Array, which they accept. They will be seen again in 6 to 8 months by a geneticist, with the first results. 
The parents also wonder about the risk of recurrence in the event of a new pregnancy; I explain to them that in the absence of a clear genetic diagnosis, it is difficult to provide them with appropriate genetic counseling. 
In total: 
Pierre Robin sequence with retrognathism and glossoptosis leading to respiratory and feeding difficulties. 
Malformative assessment without anomalies but with some associated morphological particularities. 
Prescription of a CGH Array initially. 
Genetic consultation in 6 to 8 months to review Valeria's evolution and discuss the first results. 
In the meantime, I remain at their disposal as well as that of the professionals following them if needed. 
Please accept the expression of my sincere greetings.