Table 1.
Summary of the clinical and molecular findings in each case
| Gestation | Gender | Prenatal ultrasound findings | Postnatal phenotype | Phenotype of affected parent | Genotype | |
|---|---|---|---|---|---|---|
| 1 | 20 | F | Femur 28.1 (<5) | Length 9th centile mesomelic limb shortening (8) | Height −1.8 SDS high arched palate bilateral MD sloping shoulders mesomelic upper limb shortening | NC_000023.10:g.(?_591632)_(605372_?)[del];[=] |
| Tibia 24.0 (<5) | Whole gene deletion (mat) | |||||
| Fibula 24.6 (10) | ||||||
| Humerus 29.0 (15) | ||||||
| Radius 23.2 (<5) | ||||||
| Ulna 24.9 (<5) | ||||||
| 2 | 29 | F | Femur 50.2 (<5) | Length 25th centile rhizomelic limb shortening (2) | Height −1.9 SDS sloping shoulders rhizomelic upper and lower limb shortening muscular hypertrophy | NC_000023.10:g.601560[G>C];[=] |
| Tibia 40.0 (<5) | NM_000451.3:c.491[G>C];[=] | |||||
| Fibula 41.0 (<5) | NP_000442:p.[(Trp164Ser)];[(Trp164=)] | |||||
| Humerus 46.0 (6) | Missense sequence variant (pat) | |||||
| Ulna 41.0 (<5) | ||||||
| 3 | 19 | M | Femur 32.5 (65) | Length 25–50th centile mesomelic lower limb shortening (15) | Height −1.2 SDS, bilateral MD, mesomelic upper and lower limb shortening. | NC_000023.10:g.(595562_601555)_(605372_?)[del];[=] |
| Tibia 27.1 (32) | Intragenic deletion (mat) | |||||
| Fibula 25.2 (15) | ||||||
| Humerus 31.0 (48) | ||||||
| Radius 26.4 (51) | ||||||
| Ulna 23.8 (<5) | ||||||
| 4 | 20 | M | Femur 28.9 (<5) | Height 25th centile (on GH) sloping shoulders pectus deformity of the chest short legs (48) | Height −1.3 SDS mesomelic upper limb shortening prominent lumbar lordosis | NC_000023.10:g.595523[del];[=] |
| Tibia 25.2 (<5) | NM_000451.3:c.448[del];[=] | |||||
| Humerus 29.7 (<5) | NP_000442:p.[(Ala150SerfsTer42)];[(Ala150=)] | |||||
| Radius 27.1 (36) | Frameshift sequence variant (mat) | |||||
| Ulna 27.0 (<5) | ||||||
| 5 | 19 | F | Femur 29.0 (<5), | Height 50th centile proportionate limb growth (16) | NC_000023.10:g.(?_60726)_(3253817_3267652)del | |
| Tibia 24.0 (<5), | arr[GRCh37] Xp22.33(60726_3253817)x1 | |||||
| Fibula 26.0 (12), | Translocation resulting in whole gene deletion (DN) | |||||
| Humerus 28.0 (5), | ||||||
| `Radius 24.0 (5) | ||||||
| Ulna 25.0 (<5) |
Gestational age is given in completed weeks. Foetal measurements of osseous segments on antenatal scanning pertain to the left limb and are given in mm with corresponding centiles in brackets. The postnatal phenotype at last review is followed by the corresponding age in months in brackets. The genotype is described according to HGVS/ISCN recommendations
F female, M male, GH growth hormone, MD Madelung deformity, Mat maternally inherited, Pat paternally inherited, DN de novo