Table 2. Clinical summary of the patients .
|
- |
Patient 1 |
Patient 2 |
Patient 3 |
Patient 4 |
Patient 5 |
Patient 6 |
|
COL2A1 heterozygous mutation (NM_001844.4) |
c.1023+2T>C |
c.905C>T:p.Ala302Val |
c.1394G>A:p.Gly465Asp |
c.2564G>A:p.Gly855Asp |
c.2006G>C:p.Gly669Ala |
c.2006G>C:p.Gly669Ala |
|
Mutation type |
Splicing |
Missense |
Missense |
Missense |
Missense |
Missense |
|
Inheritance |
De novo |
De novo |
De novo |
De novo |
Maternal |
De novo |
|
Novel variant |
+ |
- |
+ |
+ |
+ |
+ |
|
Gender |
Male |
Female |
Male |
Female |
Male |
Female |
|
Age of diagnosis (years) |
0.42 |
3 |
7.5 |
1.5 |
1 y |
28 |
|
Age at last admission (years) |
3 |
6 |
12 |
4.5 |
5 y 10 mo 5.83 |
32 |
|
Short-trunk dwarfism, identifiable at birth |
- |
+ |
+ |
+ |
+ |
? |
|
Height SDS |
-2 |
-5.9 |
-8.3 |
-7.8 |
-5.3 |
-6.8 |
|
Weight SDS |
-0.9 |
-2.9 |
-2.4 |
-4.5 |
-2 |
-2.8 |
|
Head circumference SDS |
1.5 |
0.5 |
0.2 |
1.4 |
-0.9 |
-2 |
|
Congenital hypotonia |
- |
+ |
+ |
+ |
- |
+ |
|
Flat midface |
+ |
+ |
- |
- |
- |
- |
|
Round face |
+ |
+ |
- |
- |
- |
- |
|
Malar hypolasia |
- |
- |
- |
- |
- |
- |
|
Short neck |
+ |
+ |
+ |
+ |
+ |
+ |
|
Cleft palate |
- |
- |
+ |
- |
- |
- |
|
Hearing loss |
- |
+ |
+ |
- |
- |
- |
|
Myopia |
- |
+ |
- |
- |
- |
- |
|
Retinal detachment |
- |
- |
- |
- |
- |
- |
|
Pectus excavatum |
- |
- |
- |
+ |
- |
- |
|
Pectus carinatum |
- |
- |
+ |
- |
- |
- |
|
Barrel chest |
- |
- |
- |
- |
+ |
- |
|
Inguinal hernias |
- |
- |
+ |
- |
- |
- |
|
Atlanto-axial instability |
- |
+ |
+ |
- |
- |
- |
|
Odontoid hypoplasia |
- |
+ |
+ |
- |
- |
- |
|
Platyspondyly |
+ |
- |
+ |
+ |
- |
+ |
|
Irregular vertebral endplates |
+ |
+ |
+ |
+ |
- |
+ |
|
Coronal vertebral clefts |
- |
- |
+ |
- |
- |
- |
|
Kyphosis |
- |
- |
+ |
- |
- |
- |
|
Scoliosis |
- |
+ |
+ |
- |
- |
+ |
|
Lordosis |
+ |
+ |
+ |
+ |
+ |
+ |
|
Dislocation of hip, congenital |
- |
? |
- |
+ |
- |
+ |
|
Coxa vara |
- |
- |
- |
- |
- |
- |
|
Coxa valga |
+ |
- |
- |
- |
- |
- |
|
Flexion contractures, especially at hip and knee |
- |
+ |
- |
- |
- |
+ |
|
Absent pubic ossification, infancy |
+ |
+ |
+ |
+ |
+ |
? |
|
Delayed epiphyseal ossification, childhood |
+ |
+ |
+ |
+ |
+ |
+ |
|
Enlarged epiphyses |
+ |
- |
- |
- |
- |
- |
|
Irregular epiphyses |
+ |
+ |
+ |
+ |
- |
+ |
|
Metaphyseal irregularity |
+ |
+ |
+ |
+ |
- |
- |
|
Osteosclerosis/osteopenia zones |
- |
- |
+ |
- |
- |
- |
|
Short, dumbbell appearance of long bones |
+ |
- |
- |
+ |
- |
- |
|
Limited joint mobility |
- |
+ |
- |
- |
- |
+ |
|
Painful joints |
- |
+ |
+ |
+ |
- |
- |
|
Enlarged joints |
+ |
+ |
- |
- |
- |
- |
|
Delayed motor milestones |
+ |
+ |
+ |
+ |
+ |
+ |
|
Abnormal gait |
+ |
+ |
+ |
+ |
+ |
- |
|
Normal intelligence |
+ |
+ |
+ |
+ |
+ |
+ |
SDS: standard deviation score