Patient 2
Patient 2 is a full-term AGA male born via repeat C-section at a local hospital after an uncomplicated pregnancy. Upon delivery, he presented as floppy and apneic with respiratory distress requiring intubation and transfer to Nicklaus Children’s Hospital. Prior to transfer, he was placed on a nasal cannula after self-extubating.
Physical exam was significant for frontal bossing, bitemporal narrowing, hypertelorism, deep set eyes, wide and depressed nasal bridge, right cup ear, micrognathia, bilateral cryptorchidism, clenched hands with overlapping fingers and toes, arthrogryposis multiplex congenita (proximal and distal contractures of bilateral upper and lower extremities),sacral dimple; peripheral hypertonia of upper and lower extremities with central hypotonia, andabsent Moro reflex.
Evaluations during admission included normal chest x-ray, spine/hip/head ultrasounds, brain MRI, CT skull, electroencephalogram (EEG) and ophthalmologic evaluation. Abdominal ultrasound showed mild left pelviectasis. Testicular ultrasound revealed left undescended testicle and left inguinal hernia. Echocardiogram revealed a small atrial septal defect. Early polysomnograms demonstrated central apnea.
Clinical course was complicated by gastroesophageal reflux disease (GERD), respiratory distress requiring nasal cannula, apneic episodes requiring caffeine administration, and poor feeding (NG tube dependency). G-tube tube placement was performed at 6 weeks of age after the videofluoroscopy swallow study showed silent aspiration of thin liquids and significant pooling within the vallecula and piriform sinuses.
Initial genetic work-up included normal newborn screen, chromosome analysis, microarray and a nondiagnostic Neuromuscular Disorders Panel at GeneDx Laboratory(80 genes). At 7 weeks of age, the patient and his mother were enrolled for rapid whole genome sequencing (rWGS).