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Table 1 Clinical features of individuals with osteopetrosis

From: Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

 

OP1-2

OP2-4

OP2-5

OP3-3

OP4-3

OP4-4

OP5-2

OP6-3

OP6-5

OP7-3

OP8-3

OP9-3

OP10-3

Gender

M

M

M

F

M

M

F

M

F

F

M

CVS

M

Age at diagnosis (months)

09

01

01

01

03

01

At birth

2.5

01

03

1.5

-

07

Parents are related

Yes

Yes

Yes

Yes

Yes

Yes

Yes

No

No

Yes

Yes

Yes

Yes

Another affected sibling

No

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

No

No

Yes

No

Delayed developmental milestones

Yes

No

Yes

Yes

Yes

Yes

Yes

No

No

No

Yes

–

No

Macrocephaly

No

No

No

Yes

Yes

Yes

Yes

No

No

No

Yes

–

 

Hepatosplenomegaly

Yes

Yes

Yes

No

Yes

Yes

Yes

Yes

Yes

Yes

Yes

–

Yes

Impairments visual, hearing, speech

Hearing

Visual

Visual

Visual

Visual

No

Visual and hearing

No

No

No

No

–

Visual and hearing

Anemia

Yes

Yes

Yes

Mild

Yes

Yes

Yes

Yes

Mild

Yes

No

–

Severe

Thrombocytopenia

Yes

Yes

Yes

Yes

Yes

Yes

Yes

No

No

Yes

Yes

–

Yes

Required transfusions

Yes

Yes

No

No

No

Yes

No

Yes

No

Yes

No

–

Yes

  1. M male, F female, CVS chorionic villus sample, – not available