| Remarks |
Clinically affected; onset of symptoms at birth; born at 42 weeks; hypotonia; chronic respiratory failure and restrictive lung disease secondary to diagnosis; sleep apnea; dysphagia; gastroesophageal reflux; dextroscoliosis (80 degree curve); thoracic kyphosis; bilateral hip dysplasia-coxa valga; constipation; otitis media; moderate persistent asthma; speech impairment; global developmental delay; max motor function achieved: walking with assistance; current max motor function: sitting when placed; bi-directional sequence analysis of the coding region of the ACTA1 gene (exons 2-7) was performed and revealed that the donor is heterozygous for a c.758G>A (G253D, Gly253Asp) mutation in exon 5 of the ACT1A gene; assistive devices: wheelchair; knee-ankle-foot orthotics; tracheotomy tube; tympanostomy tubes; adenoidectomy; ventilator greater than 12 hours/day; daily airway clearance via cough assist; gastrostomy tube; growing rod implantation (T2-pelvis); medications: ibuprofen, Zantac, lactulose, Senna, ergocalciferol, Benadryl children’s allergy, Nasonex, Singulair, ipratropium bromide, Albuterol, sodium chloride/albuterol nebulizer, Atrovent; fibroblast is GM25336. |