Table 1.
Summary of clinical, molecular, and ultrastructural findings
| Subject | |||
|---|---|---|---|
| 1 | 2a | 3b | |
| Age at last evaluation (years) | 10 | 13 | 1.8 |
| Gender | F | M | M |
| Ethnicity | Hispanic | Hispanic |
Hispanic/ African American |
| Clinical features | |||
| Short stature | + | + | + |
| Short neck | − | − | − |
| Laryngeal or tracheal stenosis | − | − | + |
| Chronic respiratory infections | − | − | − |
| Cardiac valve disease | + | − | + |
| Hepatomegaly | − | − | − |
| Motor delay | − | − | + |
| Skin stiffness | − | − | + |
| Small hands/feet | + | + | + |
| Joint contractures | − | − | + |
| Tiptoe gait | − | − | − |
| J‐shaped sella | + | + | + |
| Short small tubular bones | + | + | − |
| FBN1 variant |
c.5284G>A p.(Gly1762Ser) |
N.A. |
c.5117G>A p.(Cys1706Tyr) |
| EM inclusions | + | N.A. | + |
M, male; F, female; N.A., not available; EM, electron microscopy. FBN1 NCBI Reference Sequences were NC_000015.10 for the gene, NM_000138.4 for the mRNA, and NP_000129.3 for the protein.
a
Sibling of subject 1.
b
Previously described in Sule et al. (2013).