| Phenotype details |
severe developmental delay/intellectual disability; Multifocal epileptiform discharges in bilateral posterior quadrant, no clinical seizures.; Generalized hypotonia; Cortical visual impairment, hyperopic refractive error and small angle intermittent strabismus; MRI brain partial agenesis of the corpus callosum, forshortened and undersulcated frontal lobes, small cerebellar vermis with mega cisterna magna and wide sylvian fissures; no microcephaly; Prominent columella; normal philtrum; Wide mouth, downturned corners, thin upper lip; Small, widely spaced teeth, bruxism; normal chin; -; Full cheeks, mild facial asymmetry; mesomelic dysplasia lower limbs; Bilateral fibular agenesis, short and curved tibia, bilateral Syme amputations with resection of cartilaginous fibular anlage and bilateral tibial osteotomies for angular deformity correction, fitted with bilateral lower extremity prosthetics at 2 years 3 months.; Right single transverse and left bridged palmar crease, bilateral hypoplastic 4th metatarsals, absence of the 5th ray and phalanges of lateral toes, 4 splayed toes; 13 rib-bearing thoracic-type vertebrae and 5 lumbar type vertebrae, hypoplastic L1 with focal kyphosis; normal hips and pelvis; osteopenia; horseshoe kidney; gastroesophageal reflux disease, dysphagia, gastrostomy tube dependent, concerns for esophageal dysmotility ± abnormal gastric accommodation, abnormal gastric emptying with no evidence of small intestinal dysmotility; no failure to thrive; Multicompartmental respiratory disease (upper airway obstruction, lower airway obstruction, ineffective mucociliary clearance, restrictive lung disease, aspiration and pneumonia), moderate to severe mixed sleep apnea, severe laryngomalacia status post supraglottoplasty at 18 months, cough assist and inhaled steroid and bronchodilator and supplemental oxygen with sleep, tonsillectomy and adenoidectomy planned; History of bilateral vesicoureteral reflux, grade II |
