Table 2.
Medical co-morbidities in 18 individuals with PURA syndrome.
| ID | Breathing/Respiratory | Feeding / GI | Skeletal | Other medical history |
|---|---|---|---|---|
| DB13-043 | Neonatal apnea, later sleep apnea | Constipation, GERD, Nissen fundoplication | None | None |
| DB15-021 | None | Constipation | Scoliosis s/p spinal fusion, bilateral femoral osteotomies | None |
| DB15-023 | Tracheostomy, history of apnea as neonate | Constipation, GERD, Nissen fundoplication, G-tube | None | None |
| DB15-027 | None | Poor neonatal feeding | None | None |
| DB15-030 | None | GERD, Nissen fundoplication, G-tube | Low bone density | Hypothyroidism. Eosinophilic esophagitis. Sleep difficulty. Renal stones while on topiramate. Anemia. |
| DB15-033 | None | Slow feeding at birth | None | None |
| DB15-035 | Apnea during RSV infection. Breath-holding spells when younger. | Constipation | Hip dysplasia, mild osteopenia | None |
| DB15-037 | Neonatal apnea, aspiration pneumonia | GERD, Nissen fundoplication, G-tube (as infant, removed at 1 year), constipation | None | Patent foramen ovale |
| DB15-045 | Asthma | Poor neonatal feeding, constipation | Scoliosis | None |
| DB16-002 | Congenital apnea | Poor neonatal feeding, required G-tube at 6 weeks, removed at 7 months of age | Left arm fracture after fall | None |
| DB16-003 | None | Poor neonatal feeding. Now G-tube fed. | None | None |
| DB16-009 | CPAP at birth, then hi-flow 02 for 6 weeks. On 02 at home for 3 weeks. | Poor neonatal feeding, had nasogastric tube until 4 weeks. Constipation. | None | None |
| DB16-012 | None | Poor neonatal feeding, required nasogastric tube first 4 weeks of life | None | None |
| DB16-016 | Sleep apnea | Poor neonatal feeding | Scoliosis, spinal fusion surgery | Neutropenia, anemia |
| DB16-017 | Recurrent apnea first year of life | Poor neonatal feeding | None | None |
| DB16-032 | Central and mixed apneas | G-tube fed since 5 weeks of life, but now with improving oral feeding; Constipation | None | Muscular ventricular septal defect |
| DB16-035 | Central apnea first 8 months of life | GERD, silent aspiration, G-tube fed for 8 months in infancy, constipation | None | PFO |
| DB16-043 | Apneas with bradycardia began at 7 days of life, stopped at 3 months | Poor neonatal feeding, required nasogastric tube. GERD. | Hip surgery at 8y | Short stature. Low body temperature as newborn. |
Abbreviations: GERD = gastroesophageal reflex disease; CPAP = continuous positive airway pressure; RSV = respiratory syncytial virus