Thanatophoric Dysplasia

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The vertebral anomaly most typically associated with Thanatophoric dysplasia is
a. Cleft vertebra
b. Butterfly vertebra
c. Platyspondyly
d. Hemivertebra.
e. Spina bifida

2. Thanatophoric dysplasia is due to:
a. A collagen type 1 defect
b. An anomaly of the FGFR type 3
c. A calcium metabolism anomaly
d. A defective mineralization.
e. Defective osteoclast

3. The prognosis for Thanatophoric dysplasia I:
a. Uniformly lethal
b. Respiratory difficulties at birth requiring intubation 
c. Is better for the Type 2 than for Type 1
d. Is worst in male than female
e. Is better for those that survive for a month or more

4. Thanatophoric dysplasia type II is differentiated from type I by :
a. Extreme rhizomelia
b. Narrow Thorax
c. Clover-leaf skull
d. Bowed long bones
e. Platyspondyly

5. The thoracic change common for Thanatophoric dysplasia I is
a. Rib fractures
b.Larger than abdomen
c. Thoracic kyphosis
d. Narrow chest
e. No anomalies

6. In Thanatophoric Dysplasia type I the common findings in limbs are :
a. Mesomelia
b.Rhizomelia
c. Acromelia
d. Multiple fractures
e. Hypermineralization

7. The karyotype in Thanatophoric Dysplasia usually is:
 a. Mosaic
b. .Aneuploid
c. Normal
d. Translocation
e. Deletion

8. The counseling for Thanatophoric Dysplasia could include:
a. Ultrasound follow up and/or termination of pregnancy
b. Prevention of recurrence
c.Bone studies of siblings and/or parents
d. None of the above
e. All of the above

9. Which of the following is not included in the differential diagnosis for Thanatophoric Dysplasia:
a. Chondroectodermal Dysplasia
b.Asphyxiating thoracic dysplasia
c. Short rib polydactyly
d. Homozygous achondroplasia
e. Arthrogryposis

10.  Which of the following is not a radiological finding for Thanatophoric Dysplasia:
a.Platyspondyly
b. Short and broad limbs bones
c. Regular flaring of the metaphyses
d. Short and broad pubic bones
e. Narrow chest


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