A girl born at term after pregnancy with gestational diabetes, with no incidents in childbirth, with low weight for gestational age (39 + 4 weeks, 2660 g).
He was admitted at 15 hours of life in Neonatology for suspected choanal atresia with apnea episodes during the collections.
Inspection reveals a peculiar phenotype characterized by: nasal root, cleft palate, retrognathia, clinodactyly and included thumbs.
She was referred to our department for evaluation.
Anterior rhinoscopy showed narrow nasal vestibule.
The impossibility of passing a nasal aspiration probe through the vestibule was present since birth.
Pediatric nasofibroscopy confirmed choanal permeability.
Facial CT confirmed the diagnosis of ECAP (pyriform aperture diameter: 8 mm; coanal width: normal central megaincisor and palatal arc with central crest).
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Echocardiogram and brain MRI were normal, ruling out malformations of the hypothalamic-pituitary axis.
The patient's development is normal.
The mild clinical repercussion of the disease allows applying conservative treatment: nasal decongestants and aspiration of secretions.
The patient is under outpatient follow-up.
