David Sutton Radiology Textbook Reading, Radiology Resident of Gajah Mada

1. TEXTBOOK READING OF SUTTON
TURNER’S SYNDROME
Textbook of Radiology and Imaging
7th Edition,Volume 2, page 1151
CHAPTER 35:
Congenital Skeletal Anomalies:
Skeletal Dysplasias,Chromosomal Disorders
Presented by :Yessi Oktiari
Consultant : dr.Yana Supriatna, Ph.D, Sp.Rad (K) RI
Presented on June 13th 2017

2. Chapter35:
CongenitalSkeletalAnomalies:SkeletalDysplasias,Chromosomal
Disorders
 Congenital Skeletal Anomalies
 Dysplasias of Bone
 Chromosomal Disorders
 Down’s Syndrome
 Turner’s Syndrome

3. Definition
 Absence of one chromosome X (45 XO)
 Most common sex chromosome
abnormalities in females
 1 : 2000-5000 live birth  it is more
common among pregnancies that do not
survive to term
 Gene SHOX  important for bone
development and growth
 Loss of one copy of this gene short
stature
https://ghr.nlm.nih.gov/condition/turner-syndrome#
https://radiopaedia.org/articles/turner-syndrome
http://www.nhs.uk/conditions/turners-syndrome/Pages/Introduction.aspx

4. Clinical Findings
 Normal intelligence
 Ovaries develop normally at first but
oocytes die prematurely and most
ovarian tissue degenerate before birth
 Heart defect (coarctation of the aorta,
abnormalities of aortic valve)
 Short stature  becomes evident by
about age 5
 Webbed neck
https://ghr.nlm.nih.gov/condition/turner-syndrome#
http://symptomstreatment.org/turner-syndrome/

5. Radiologic Features
 Skeletal features  inconstant and non spesific
 Decreased density of the skeleton (esp. hands & feet)
 Older patient  osteoporosis
Antenatal ultrasound
1. Cystic hygroma
2. Increased nuchal thickness
3. Increased nuchal translucency
4. Hydrops fetalis
5. Mild IUGR
6. Short fetal limbs
https://radiopaedia.org/articles/turner-syndrome

6. Radiologic Features
Nuchal translucency
Increased nuchal translucency
 A finding during first trimester
 Measured on a sagittal image
through the fetal neck
 Rate of aneuploidy when the
nuchal translucency is <2 mm
 less than 1%
https://radiopaedia.org/articles/nuchal-translucency-1
https://en.wikipedia.org/wiki/Nuchal_scan#/media/File:Nuchal_tra
nslucency_Dr._Wolfgang_Moroder.jpg

7. Radiologic Features
Nuchal thickness
Increased nuchal thickness
 Measured in a second trimester
 Abnormal value : >5-6 mm
 Should not be measured after 20.6
weeks
https://radiopaedia.org/articles/nuchal-fold-thickness-1
http://www.fetalultrasound.com/online/text/2-040.HTM

8. Radiologic Features
Cystic hygroma
 A cystic lymphatic lesion
 Septation  indicate poorer outcome
 Volumes > 75 mm3  correlate with
increased karyotipic abnormality and
poorer fetal outcome
https://radiopaedia.org/articles/cystic-hygroma-1
Diagnostic Imaging of Fetal Anomalies

9. Radiologic Features
Hydrops fetalis
 Excessive accumulation of fluid in
fetal subcutaneous tissue or at
least two fetal serous cavities
 Fetal pleural effusion
 Fetal pericardial effusion
 Fetal ascites
 Placental enlargement
 Polyhydramnios
 Hepatomegaly
 Fetal anasarca
https://radiopaedia.org/articles/hydrops-fetalis
http://www.fetalultrasound.com/online/text/36-029.htm

10. Radiologic Features
Hand and Feet
Post partum and Adulthood
HAND :
1. Positive metacarpal sign
2. Increased carrying angle of the elbow/
cubitus valgus
FEET :
1. Abnormal medial tibial condyle 
depressed & beak like
2. Abnormal medial femoral condyle 
project downward

11. Radiologic Features
Positive metacarpal sign
 A line drawn along the heads of the 4th and 5th metacarpals will intersect
the head of the 3rd metacarpal
https://radiopaedia.org/articles/positive-metacarpal-sign

12. Radiologic Features
Cubitus valgus
Increased carrying angle of the elbow/
cubitus valgus
 Carrying angle (cubital angle) 
formed between the humerus and the
forearm axes
 Normal : 5-15o away from the body or
165-175o towards it
 < 5º : Cubitus varus
 > 15º: Cubitus valgus
https://radiopaedia.org/articles/carrying-angle
https://forum.bodybuilding.com/showthread.php?t=167265691

13. Radiologic Features
Cardiovascular defect
Shoham et al, 2016

14. Radiologic Features
Horseshoe kidney
Sho et al, 2005

15. Differential Diagnosis
1. Noonan Syndrome
2. Trisomies 13, 18 and 21 (Down Syndrome)

16. Differential Diagnosis
Noonan Syndrome
Turner’s Syndrome Noonan Syndrome
Normal intellegence Greater insidence of mental retardation
Menstruation (-) Menstruation (+)
Cardiac defect : coartation aorta,
bicuspid aortic valve
Cardiac defect : pulmonary stenosis,
hypertrophic obstructive cardiomiopathy
Webbed neck Webbed neck
Metacarpal sign
Cubitus valgus
Short stature
Pectus carinatum, pectus cavus
Cubitus valgus
Short stature
Abnormal chromosome Normal chromosome
Horseshoe kidney Large extrarenal pelves
- Roentgen Findings in Noonan’s Syndrome, 1970
- https://ghr.nlm.nih.gov/condition/noonan-syndrome

17. Differential Diagnosis
Trisomies 21 (Down Syndrome)
Turner’s Syndrome Down Syndrome
Normal intellegence Mental retardation
Cardiac defect : coartation aorta,
bicuspid aortic valve
Cardiac defect : intracardial septal defect
Metacarpal sign
Cubitus valgus
Clinodactily
Mickey mouse pelvis (large ilium)
Absence of the last rib
Webbed neck Orbital hypo/ hypertelorism
Cystic hygroma
Increased nuchal thickness
Increased nuchal translucency
Cystic hygroma
Increased nuchal thickness
Increased nuchal translucency
- Radiological Features ofThe Most Common Autosomal Disorders, 1971

18. Resume
 Definition
 Clinical findings
 Radiologic features

19. Quiz
Radiologic features ofTurner’s Syndrome are the following below,
except :
a. Positive metacarpal sign
b. Carrying angle 17º
c. Increased nuchal translucency (antenatal US)
d. Nuchal thickness about 5 mm
e. Depressed medical tibial condyle
Answer : D

20. Terimakasihdan
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