David Sutton Radiology Textbook Reading, Radiology Resident of Gajah Mada

1. TEXTBOOK READING OF SUTTON
PSEUDOACHONDROPLASIA
Textbook of Radiology and Imaging
7th Edition,Volume 2, page 1142
CHAPTER 35:
Congenital Skeletal Anomalies:
Skeletal Dysplasias,Chromosomal Disorders
Presented by :Yessi Oktiari
Consultant : dr.Yana Supriatna, Ph.D, Sp.Rad(K)RI

2. Chapter35:
CongenitalSkeletalAnomalies:SkeletalDysplasias,Chromosomal
Disorders
 Congenital SkeletalAnomalies
 Dysplasias of Bone
 …
 Achondroplasia
 Hipochondroplasia
 Pseudoachondroplasia
 Thanatoporic dwarfism
 Asphyxiating thoracic dystrophy
 …

3. Definition
 Inherited disorder of the bone
 Short limbed dwarfism
 Without achondroplasia’s characteristic facial
features  skull is normal
 Frequency  estimated 1 : 30.000
https://www.ncbi.nlm.nih.gov/books/NBK1487/

4. Pathophysiology
 Mutation in the gene encoding COMP
(Cartilage Oligomeric Matrix Protein)
 Provides instruction for making a protein essential
for the normal development of cartilage and
conversion to bone
 Inherited in an autosomal dominant
 Most cases  new mutation in the gene
https://www.ncbi.nlm.nih.gov/books/NBK1487/

5. Clinical Findings
 Normal length at birth
 By the age of two  growth rate falls below the
standar growth curves
 Normal facies, normal head size, normal
intellegence
 Short stature, average :
 Man : 120 cm
 Woman : 116 cm
 Waddling gait  recognized at the onset of
walking
https://www.ncbi.nlm.nih.gov/books/NBK1487/

6. Clinical Findings
 Limited ROM of elbows & hips
 Genu valgus, valrus or windswept deformity
 Scoliosis, lordosis
 Joint pain in childhood  progress to joint
disease (osteoarthritis)

7. Clinicial Apperance
Source:Children’s Orthopaedics and Fractures 3rd Edition

8. Diagnosis
 Clinical findings and radiologic features
 Inconclusive clinical features  identification
of heterozygous pathogenic variant in COMP
in molecular genetic testing
https://www.ncbi.nlm.nih.gov/books/NBK1487/

9. Radiologic Features
 Vertebrae
 Platyspondyly with anterior
tongues of vertebral bodies
http://www.endotext.org/chapter/skeletal-dysplasias/figure-9-pseudoachondroplasia/

10. Radiologic Features
 Long bones
 Irregular epiphyses
 Swollen bulb-like
metaphyses
Source: PediatricOrthopedics in Practice 2nd Edition

11. Radiologic Features
 Pelvis
 Irregular
 Large ilia
 Short pubes & ischia
Source:
- PediatricOrthopedics in Practice 2nd Edition
- https://radiopaedia.org/articles/pelvis-1 NormalAP pelvis radiograph

12. Radiologic features
 Hands
 Short tubular bones
 Delayed in ossification of
irregular epiphysis & carpal
bones
Source:Grainger andAllison's Diagnostic Radiology: Paediatric Imaging 6th Edition

13. Differential Diagnosis

14. Differential Diagnosis
Source: PediatricOrthopedics in Practice 2nd Ed

15. Resume
 Definition
 Pathophysiology
 Clinical findings
 Clinical appereance
 Diagnosis
 Radiologic features
 Differential diagnosis

16. Quiz
Radiologic features of pseudoachondroplasia are the following below,
except :
a. Platyspondyly with anterior tongues of vertebral bodies
b. Irregular epiphyses
c. Swollen bulb-like metaphyses
d. Large ischia
e. Short pubes

17. Terimakasihdan
mohonasupan