Table 1.
Summary of signs and symptoms of perinatal hypophosphatasia clinical cases
| Point number | In utero signs? | Age at onset of HPP symptoms | Muscular hypotonia at presentation | Respiratory distress at presentation | Respiratory support | Seizures | First radiologic valuation | Age at death (days) |
|---|---|---|---|---|---|---|---|---|
| 1 | No | 2 weeks | Yes | No | Unknown | Yes, Day 1 | Date N/A, metaphyseal flaring | 36 |
| 2 | Yes; severe micromelia and undermineralized skull | At birth | No | Yes | No | No | N/A | 30 min |
| 3 | Yes; fetal U/S, 29 wk GA, severe micromelia, undermineralized skull | At birth | No | Yes | No | No | N/A | 10 |
| 4 | Yes; fetal U/S 36 wk GA, micromelia, undermineralized skull, femoral fracture | At birth | No | Yes | Yes; at birth, intubated and ventilated | No | Day 1, osteopenia | 1 |
| 5 | Yes; fetal U/S, 25 wk GA, micromelia with bowing, bilateral forearm fractures | At birth | No | No | No | Yes, Day 36 | Day 3, osteopenia; bilateral femoral bowing; left radial, left ulnar, and bilateral humeral fractures | 263 |
| 6 | Yes; fetal U/S, 21 wk GA, micromelia with bowing, demineralized skull | At birth | No | No | No | No | Prenatal X-ray (10 days before birth), osteopenia, thin gracile ribs, deformities of all long bones | 3 h |
| 7 | Yes; fetal ultrasound, GA N/A, micromelia, demineralized skull | At birth | No | n.a. | n.a. | No | Day 1, report N/A | Stillborn |
| 8 | No | At birth | No | No | No | Yes, Day 1 | Day 41, report N/A | 281 |
| 9 | Yes; report N/A | At birth | No | Yes | Yes; at Birth, intubated and ventilated | No | Day 2, osteopenia, marked metaphyseal irregularity of all tubular bones | 1 |
| 10 | No | At birth | Yes | Yes | Yes; at birth, supplemental oxygen | Yes, Day 1 | Day 2, metaphyseal flaring | 125 |
| 11 | No | At birth | No | Yes | Yes; at birth, intubated and ventilated | No | Date N/A, metaphyseal flaring, rachitic chest | 5 |
| 12 | Yes; fetal X-ray, GA N/A, undermineralized bones | At birth | No | Yes | Yes; at birth, supplemental oxygen | No | Day 2, osteopenia, metaphyseal flaring | <1 h |
| 13 | Yes; fetal U/S, GA N/A, report N/A | At birth | No | n.a. | n.a. | No | Date N/A, absence of some bones | Stillborn |
| 14 | No | At birth | No | Yes | Yes; at birth, intubated and ventilated | No | Day 1, osteopenia, no ossification of forearm bones, deficient upper thoracic and cervical vertebrae | <1 day |
| 15 | No | At birth | No | No | Unknown | No | Date N/A, osteopenia, recent fracture | 11 |
U/S ultrasound, wk weeks, GA gestational age, N/A not available, n.a. not applicable