Table 1.
Clinical details of Steel syndrome patients
| Item | Our patient | Patient 1 (Gariballa et al., 2017) | Patient 2 (Kotabagi et al., 2017) | Patient 3 (Maddirevula et al., 2019) | Patient 4 (Thuresson et al., 2019) | Puerto Ricans (Flynn et al., 2010; Gonzaga‐Jauregui et al., 2015) |
|---|---|---|---|---|---|---|
| Age at consultation (years) | 9 | 3 | 3 | 5 | 3–50 | |
| Sex | F | F | F | M | F | M/F |
| Origin | Syria | UAE | India | n.a. | n.a. | Puerto Rico |
| Consanguinity of parents | N | Y | N | Y | n.a. | Founder effect |
| Length | 85.5 cm (−7.9 SD) | n.a. | 84 cm (−3 SD) | n.a. | Growth retardation | 100% short stature |
| OFC | n.a. | 45.5 cm (−2 SD) | 44 cm (−3 SD) | n.a. | n.a. | n.a. |
| Congenital hip dislocation | Y | Y | Y | Y | Y | 100% |
| Scoliosis | Y | n.a. | n.a. | Y | Y | 53% |
| Carpal coalition | n.a. | n.a. | Y | n.a. | n.a. | 73% |
| Radial head dislocation | Y | Y | Y | n.a. | n.a. | 91% |
| Genu valgum | n.a. | Y | Y | n.a. | n.a. | n.a. |
| Coxa vara | Y | Y | Y | n.a. | Y | n.a. |
| Vertical talus/luxation of talus | Y | n.a. | Y | n.a. | n.a. | n.a. |
| Pes cavus | N | n.a. | N | n.a. | Y | 34% |
| Cervical spine abnormalities | n.a. | Y | n.a. | n.a. | Y | 10% |
| Hearing impairment | Y | Y | Y | n.a. | Y | n.a. |
| Speech delay | Y | Y | Y | Y | Mild ID | n.a. |
| Motor developmental delay | Y | N | Y | Y | Mild ID | n.a. |
| Additional findings | Colobomata of irides, choroideae, macula | Inguinal hernia, cryptorchidism | SGA, delayed myelination | |||
| COL27A1 mutations |
c.93del, p.(Phe32Leufs*71), c.3075del, p.(Lys1026Argfs*33) Compound heterozygous |
c.3556‐2A>G Homozygous |
c.521_528del, p.(Cys174Serfs*34), c.2119C>T, p.(Arg707Ter) Compound heterozygous |
c.4261‐1G>A Homozygous |
c.2710G>A, p.(Gly904Arg) Homozygous |
c.2089G>C, p.(Gly697Arg) Homozygous |
Abbreviations: F, female; ID, intellectual disability; M, male; N, no; n.a., not available; OFC, occipitofrontal circumference; SD, standard deviation; SGA, small for gestational age; UAE, United Arab Emirates; Y, yes.