May 14, 2020

At birth, the participant was noticed to have folded ears (overfolding of the superior helices) and eye abnormalities (retinal coloboma, microphthalmia, strabismus).  At 3 months, she began to experience seizures (infantile spasms). Although a ketogenic diet helped the participant become seizure-free for 5 years, the seizures (generalized tonic-clonic, generalized myoclonic, focal seizures) returned.  She is currently having a couple per week on average. Brain abnormalities have been noted on MRI and a neurology exam at 1 year showed stiff and tight limbs (spasticity). Some of her other symptoms include feeding difficulties, curvature of the spine (scoliosis, kyphoscoliosis), and abnormal position of the intestines (intestinal malrotation).

• Seizures (generalized tonic-clonic seizures, generalized myoclonic seizures, focal seizures with impairment of consciousness or awareness)
• Severe global developmental delay
• Absent speech
• Inability to walk
• Brain abnormalities (hypoplasia of the corpus callosum, enlarged cisterna magna, cerebral white matter atrophy, frontoparietal polymicrogyria, Perisylvian polymicrogyria, tethered cord)
• EEG abnormality (generalized slow activity)
• Eye abnormalities (retinal coloboma, microphthalmia, strabismus)
• Stiff and tight limbs (spasticity)
• Lack of coordinated movement (dysmetria)
• Feeding difficulties
• Obstructive sleep apnea
• Left facial palsy
• High palate
• Extra teeth (hyperdontia)
• Thin upper lip (thin vermilion border)
• Narrow head shape (dolichocephaly)
• Flattened cheekbones (malar flattening)
• Long distance between upper lip and nose (long philtrum)
• Downslanted and narrow eyes (downslanted palpebral fissures, narrow palpebral fissures)
• Downturned corners of mouth
• Prominent forehead
• Folded ears (overfolding of the superior helices)
• Thick eyebrows
• Increased body hair (hirsutism)
• Thick hair
• Delayed gastric emptying (gastroparesis)
• Pancreatitis
• Abnormal position of the intestines (intestinal malrotation)
• Recurrent urinary tract infections
• Curvature of spine (scoliosis, kyphoscoliosis)
• Extra vertebra
• Extra set of ribs
• Abnormality of the knees (knee flexion contracture, asymmetry of the patella)
• Overlapping toe
• Premature androgen production (premature adrenarche)

• Alendronate – osteoporosis
• Clobazapam, Banzel, Diastat, ketogenic diet – seizures
• Estradiol – premature androgen production
• G tube placement

• Gallbladder removal
• GJ tube placement
• Strabismus surgery
• Spinal cord release surgery