The patient was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal … read more
The participant experiences progressive weakness in his lower limbs. Early in his disease course, he was suspected to have spinal muscular atrophy and Charcot-Marie-Tooth disease type 2. Genetic testing later ruled out these diagnoses. An electromyogram (EMG) showed evidence of nerve damage (axonal neuropathy). In his more active years, the … read more
The patient was born early at 35 weeks. During the pregnancy, the patient’s mother had preeclampsia. At about 18 months, the patient was found to have early onset bilateral profound sensorineural hearing loss. Currently she has bilateral cochlear implants. The patient was adopted from Russia at age 3 and was … read more
