Phenotypic comparison between Apert syndrome patients and mice
| Affected organ . | Humans* (%) . | Mice (%) . |
|---|---|---|
| Skull | 100 (68/68) | 100 (10/10) |
| Craniosynostosis | 100 (68/68) | 67 (6/9)‡ |
| Midline suture | 100†(N/A) | 100 (10/10) |
| Palate | 58 (39/67) | 100 (8/8) |
| Central nervous system | 21 (10/48) | 20 (2/10)§ |
| Trachea | Eight cases† | 8 (1/13)§ |
| Thymus | No reported cases | 50 (5/10) |
| Lungs | 1.5†(2/136) | 100 (13/13) |
| Cardiovascular system | 16 (11/67) | 64 (7/11) |
| Gastrointestinal system | 1.5†(2/136) | 50 (5/10) |
| Genitourinary system | 8†(10/123) | 0 (0/10) |
| Syndactyly | 100 (68/68) | 0 (0/13) |
| Long bones¶ | 95†(36/68) | 90 (9/10) |
| Affected organ . | Humans* (%) . | Mice (%) . |
|---|---|---|
| Skull | 100 (68/68) | 100 (10/10) |
| Craniosynostosis | 100 (68/68) | 67 (6/9)‡ |
| Midline suture | 100†(N/A) | 100 (10/10) |
| Palate | 58 (39/67) | 100 (8/8) |
| Central nervous system | 21 (10/48) | 20 (2/10)§ |
| Trachea | Eight cases† | 8 (1/13)§ |
| Thymus | No reported cases | 50 (5/10) |
| Lungs | 1.5†(2/136) | 100 (13/13) |
| Cardiovascular system | 16 (11/67) | 64 (7/11) |
| Gastrointestinal system | 1.5†(2/136) | 50 (5/10) |
| Genitourinary system | 8†(10/123) | 0 (0/10) |
| Syndactyly | 100 (68/68) | 0 (0/13) |
| Long bones¶ | 95†(36/68) | 90 (9/10) |
N/A, not available.
Frequency in humans based on patients with a FGFR2+/S252W mutation(Cohen and Kreiborg, 1993; Park et al., 1995; Slaney et al., 1996).
Based on patients with either a +/S252W or a +/P253R mutation (Cohen and MacClean 2002).
Craniosynostosis based on abnormal histology in mice.
Central nervous system and trachea not examined by serial sections in mice.
Long bones refer to short humeri in humans and to abnormal histology in mice.