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).