Patient |
Consanguinity |
Age at diagnosis |
Present age |
Gender |
Clinical |
Radiologic |
Laboratory |
1 |
- |
9 y |
12 |
Male |
Mental retardation
Cutis laxa
Seizures
Dysmorphism
Large fontanel
Myopia |
Non-lissencephalic cortical dysplasia
Hip luxation
|
Protein S= 54% (72-150)
Tf IEF: ↑ 3S, 2S |
2 |
- |
6 y |
8 |
Female |
Mental retardation
Cutis laxa
Seizures
Dysmorphism
Large fontanel
Myopia |
Non-lissencephalic cortical dysplasia
Hip luxation
Scoliosis
Genu valgum |
Protein S= 51% (64-126)
Factor XI= 34% (60-140)
Tf IEF: ↑ 3S, 2S
|
3 |
? (adopted) |
6 y |
12 |
Female |
Mental retardation
Cutis laxa
Seizures
Dysmorphism
Large fontanel |
Non-lissencephalic cortical dysplasia
Hip luxation
Hydronephrosis |
Protein S= 61% (64-126)
Factor XI= 52% (60-140)
Antithrombin= 68% (80-120)
Tf IEF: ↑ 3S, 2S, 1S
|
4 |
+ |
1 y |
3 |
Male |
Mental retardation
Cutis laxa
Dysmorphism
Large fontanel
Microcephaly
Unilateral chorioretinitis |
Non-lissencephalic cortical dysplasia
Hydronephrosis
|
Protein S= 55% (72-150)
Factor VIII >200% (60-150)
Factor XI= 54% (60-140)
Factor VIII >200% (60-150)
Tf IEF: ↑ 3S, 2S
|
5 |
+ (adopted) |
5 y |
10 |
Male |
Mental retardation
Dysmorphism
Failure to thrive
Cataract |
Scoliosis |
ENMG: myopathy
Protein S= 47% (75-141)
Factor VIII = 180% (60-150)
CK= 241-996 IU/L (24-190)
Tf IEF: ↑ 3S, 2S, 1S |
6 |
- |
6 y |
14
|
Female |
Mental retardation
Dysmorphism
Macrocephaly
Obesity
Myopia / strabismus |
Flatfoot |
Factor VIII >200% (60-150)
Factor IX >200% (60-150)
Factor XI= 170% (60-140)
Tf IEF: ↑ 3S
|