Table 3.
Clinical Findings[Note]
|
Patient Numbera |
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| Findings | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 |
| Age (years)b | 6 | F | 10 | 3 | 27 | 28 | 4 | F | 2 | 38 | F | F | 17 | 5 | Fc | 2 | 9 | F | F | 24 | Fd | F | F |
| Hearing loss | 7 | + | + | + | + | + | + | + | + | + | − | + | + | + | + | − | − | − | −e | −e | − | −e | |
| Retinal detachment | − | − | − | − | − | − | − | + | − | − | + | − | + | − | − | − | − | + | + | + | + | + | + |
| Vitreoretinal degeneration | − | − | + | − | − | − | + | + | − | + | − | + | − | + | − | − | + | + | + | + | + | ||
| Cataract | +f | + | − | − | − | − | − | + | − | + | + | − | + | − | + | − | − | + | + | + | + | + | |
| High myopia | + | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | + | + | + | + | + |
| Short stature | − | + | − | − | + | + | + | + | + | − | + | − | + | + | − | − | + | − | − | + | − | − | |
| Tall stature | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | − | + | − | + | − | |
| Hypertelorism | + | + | − | − | + | + | − | − | + | + | − | − | − | − | + | − | − | − | − | + | − | ||
| Epicanthus | + | + | + | + | − | + | − | + | + | − | + | − | + | − | + | + | − | − | + | ||||
| Short nose | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | + | − | − | + | + | |
| Anteverted nares | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | − | − | − | + | ||
| Micro/retrognathia | + | + | + | + | + | − | + | − | + | + | − | − | + | + | + | + | − | + | + | − | + | ||
| Midfacial hypoplasia | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | + | + | + | + | + | |
| Flat nasal bridge | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + | + | + | − | + | + | |
| Long philtrum | + | + | + | − | − | + | + | + | + | − | − | + | + | + | + | + | + | − | + | − | |||
| Palatal defect | + | + | + | + | − | + | + | − | + | + | + | − | + | + | + | + | + | + | + | + | + | + | + |
| Lowered auricles | + | + | − | − | + | − | − | + | − | − | − | − | − | − | + | ||||||||
| Dental abnormalities | + | − | − | − | − | − | − | − | − | − | − | − | − | − | + | ||||||||
| Abnormal frontal sinuses | + | + | − | + | − | − | |||||||||||||||||
| Intracranial ossifications | − | + | − | + | − | − | − | ||||||||||||||||
| Thick calvarium | + | − | + | − | + | − | − | − | |||||||||||||||
Note.— A plus sign (“+”) denotes presence of the finding, and a minus sign (“−”) denotes the absence of the finding.
Patients showed a splicing mutation of a 54-bp exon, or showed a genomic deletion causing a loss of 54 bp in exons coding for the C-terminal half of the α1(XI) molecule (patients 1–10), other mutations in the COL11A1 gene (patients 11–15), and the mutation in the COL2A1 gene (patients 16–23). Osteoarthritic changes were not evaluated because many of the patients were too young.
An “F” denotes that several affected family members were evaluated and the results were combined.
The clinical features of case 15 (family B) have been published previously by Zlotogora et al. (1992).
The clinical features of case 21 (family DP-Minn) have been published previously by Knowlton et al. (1989).
Presented with a mild hearing defect.
Presented with cataract later in life.