The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.
The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.
Patient 1 |
Patient 2 |
|
Age |
6 yr 2 mo |
4 yr 8 mo |
Sex |
Male |
Female |
Birth weight (g) |
1800 |
Unknown |
Birth length (cm) |
Unknown |
Unknown |
Pregnancy/delivery |
Alcohol abuse/Normal |
Alcohol abuse/Normal |
Short stature |
< 3rd percentile |
3rd percentile |
Short hands/feet |
+ |
+ |
Peculiar face |
+ |
+ |
Hepatomegaly (cm) |
- |
- |
Cardiac involvement |
IVC/dilated coronary sinus |
Subaortic ring |
Joint contractures (elbow) |
+ |
+ |
Psychomotor development |
Delayed |
Normal |
Head circumference (percentile) |
50th |
50th |
Stubby proximal phalanges (Rd) |
+ |
+ |
Oligosaccharide secretion (urine) |
- |
- |
Lysosomal vacuoles (Skin - EM) |
- |
NS |