Winning Poster Presentation of Ultrafest 2014

1. Extended skeletal
anomaly survey
Dr. K. Saneej DMRD DNB(RD)
Radiologist
ARMC IVF Fetal Medicine Unit
Kozhikode

2. 26 yr primi 26 wks GA
Referd as“short bones for evaltn”
BPD, HC, OFD, CI, BMD : Normal AC- Asym IUGR
Case 1

3. Short HL Short FL
Normal Hand
Short forearm
Normal Kidneys

4. Narrow thorax
Protuberant Abd
TL : < 3rd %tile of GA
Heart > 2/3rd , Lungs hypoplastic
TC : < 3rd %tile of GA
TC/AC = 0.55 ( N= >0.8)

5. •Thoracic & Lung
biometry various
methods
•Compare with available
nomograms
Chest restriction  Pulm
hypoplasia
Severe skel dysplasia +
marked thoracic inv + pulm
hypoplasia
Counsel parents reg
prognosis even if
specific type of skel
dysp is not known
The fetal musculoskeletal system, pg 439, Ultrasonography in obstetrics & Gynecology , Peter W
Callen 5th edition, 2008

6. Conclusion
• Severe Micromelia
• Normal mineralization of
bones
• Narrow thorax
• Hypoplastic lungs
• Protuberant abdomen
• Asymmetrical IUGR
• No polydactyly/ syndactyly
• No skull / face deformities
• No micro/ macrognathia
• No Hyper/ hypotelorism
• Normal foot / hand size
• No amputation/ # / bowing /
absence
• No cardiac / renal defects
• Lethal skeletal dysplasia
• Possibly
– Thanatophoric dysplasia Type-I

7. Post natal
• Severe Micromelia
• Protuberant Abdomen
• Extended arms
• Abducted & externally
rotated thighs
• Narrow chest
• Normal trunk length
• Short thoracic length
• Hands & feet are normal

8. Infantogram
• Severe Micromelia
• Protuberant abd
• Large head with short base of
skull
• Narrow chest
• Short horizontal ribs
• Not extending beyond ant axillary
line
• Cupped anterior ends
• Bone mineralization is normal
• Vertebrae are unremarkable
Short curved “telephone handle” humeri
Small scapula
Normal clavicles
Telephone receiver femora
Metaphyseal flaring
Thorn like projections in metaphyseal area

9. Autopsy
• Hepatomegaly
• Normal two Umbilical
arteries
Hypoplastic lungs
Diagnosis Thanatophoric Dysplasia Type- I

10. What do we do in a case of
-2SD ( <5th %tile) FL?
• Measure all long bones – note %tile for GA
• Rpt scan after 2-3 wks
• If still < 5th %tile = No dysplasia
• If < 3rd %tile = Suspect dysplasia
• If < 1st %tile =Confirm lethal dysplasia
• If FL <5mm below 5th %tile = confirm LD
• Look at the parental build
• Long bone morphology & pattern of shortening
• Other findings encountered in a skeletal dysplasia

11. Ultrasound practice..
1) Office practice ultrasound.
2) Ultrasound centres doing basic level USG.
3) Referral centres with high level of
expertise.
4) Fetal medicine centers.

12. What is the difference ??
• Basic level
– “SLIUP of 20 weeks Avg GA, FL is showing 3Wks
disparity”
• Expert level
– “Micromelic Short limb dwarfism with narrow
thorax, Polydactyly, Cardiac anomaly”
• Fetal medicine centre
– “SRP Type III Verma-Naumoff Syn ( Lethal)”

13. Basic level scanning
• No need to specify what type of skel dysplasia
• Short limb sk dysplasia
• Ass with narrow Tx
• Not ass with narrow Tx
• You can always do a postnatal diagnosis

14. 11 Steps n Suspected Sk
dysplasia
1) Measure all long bones
2) Compare with other segm & classify
a) Rhizomelia
b) Mesomelia
c) Acromelia
d) Severe micromelia
Bower man RA: anomalies of the fetal skeleton:
sonographic findings AJR, 164:973, 1995
Expert level scanning

15. 11 Steps n Suspected Skel
dysplasia
3) Qualitative assessment of long bones
a) Demineralisation
b) Fractures
c) Bowing
d) Metaphyseal flaring
e) Absence of bones
Hall CM, Washbrook J: REAMS: Radiological Electronic Atlas of Skeletal
Malformation Syndromes. (1.0).2000.London, Oxford Press Electronic Publishing

16. 11 Steps n Suspected Skel
dysplasia
4) Chest dimensions- determine risk of pulm
hypoplasia
5) Evaluation of hands & feet
a) Digits ( poly/ syndactyly)
b) Positional deformities
Yoshimura S, Masuzaki H, et al: USG prediction of lethal pulmonary
hypoplasia: Comparison of 8 diff parameters Am J OBG 17: 477 , 1996

17. 11 Steps n Suspected Skel
dysplasia
6) Evaln of cranium
a) Macrocrania
b) Frontal bossing
c) Cloverleaf skull
d) Hyper/hypotelorism
7) Facial clefts
• US of cong fetal anomalies, Paladini & Volpe : 2007. P. 282

18. 11 Steps n Suspected Skel
dysplasia
8) Examn of spine
a) Platyspondyly
b) Demineralisaion
c) Hemi vertebrae
d) Coronal clefts
9) Vertebral disorganisationEvaln of
internal organs + fetal ECHO
10)Fetal movement
11)AFIThe fetal musculoskeletal system, pg 437, Ultrasonography in obstetrics &
Gynecology , Peter W Callen 5th edition, 2008

19. Case 2, G3P2L1MTP1
• Last pregn : MTP for fetal anomaly skeletal
dysplasia with cleft lip
• 34 wks GA as per LMP
BPD, HC, OFD, CI, BMD
Normal
Hyperechoic
Enlarged kidneys

20. Femur L
<2nd %tile
<2nd %tile
Radius L, Ulna L

21. Tibial L, Absent fibula
<2nd %tile
TC/AC = 0.6
<2nd %tile
Thoracic Circ

22. Abd Circ, Ascites
<3rd %tile
Median cleft Lip

23. Spine: few under ossified vert bodies
CTEV

24. Fingers: Polydactyly
6
7
Brachydactyly
Double thumb
Extra little finger
Polyhydramnios

25. Conclusion
Severe micromelia
Pulmonary hypoplasia ( Lethal)
Fetal Ascitis & Polyhydramnios
Renal Dysplasia
Post & pre axial polysyndactyly
Brachydactyly
Median Cleft lip
Absent Fibula, CTEV, under ossified vertebral bodies
i. Short rib Polydactyly Syndrome
Type II (Majewski) or
IV ( Beemer- Langer)
Diagnosis

26. • Short limbs
• Constricted thorax
• Midline cleft lip
• Short flat nose
• Low set & malformed
ears
• Blepharophymosis
Postnatal
• Prominent Abd
• Thick umbilical cord
• Hypoplastic epiglottis
• Malformed larynx
• Cystic renal Dysplasia
•Post & pre axial polysyndactyly
•Double thumb
•Extra little finger
•7 digits in one hand
•B/l simian crease.
•Brachydactyly
• Bifid scrotum
• No penile stump
• u/l CTEV
• Polysyndactyly of feet

27. Infantogram
• Micromelia
• Extremly short hztly oriented ribs
• Few Under ossified vertebral
bodies
• Underossified phalanges
• Post & preaxial polysyndactyly of
hands & feet
• No fibula
• Widened metaphyses of femori
• Disproportionately short tibiae
• Poly syndactyly of feet
Short rib-polydactyly syndrome II: Majewski type
Diagnosis

28. Dating Scan
Case III •19 yr primi
•Nonconsanguinous marriage
Growth Scan
FL : < 5th %tile of GA ( - 2SD from mean)
Referred for higher Level scanning

29. Level II scanning Report

31. No ventriculomegaly
Case III Findings
FL < 1st %tile
HL < 4th %tile of GA

32. ULNA & RADIUS NORMAL
TIBIA & FIBULA NORMAL
Rhizomelic
Short limbs

33. Hepatomegaly
Spleen : Normal
Ascites (+)

34. Narrow thorax
Right lobe length : < 3rd %tile
Transthoracic diameter : <1st %tile
Thoracic circ : < 1st %tile
TC/AC : < 70 %

35. Absent LK
RK seen
Grade I Echogenic bowel loops

37. Conclusion
• Rhizomelic short limb dwarfism
• Narrow thorax
• Ascites
• Hepatomegaly
• Absent/hypoplastic LK
• No polydactyly
• No CL/ CP
• Normal heart
• Normal Spine

38. Diagnosis
• Asphyxiating Thoracic dysplasia ( Jeune)
– Diagnosis in low risk pregn ( without family history)
is challenging.
• Reported only in 3rd TM
– +ve family history helps in 2nd TM diagnosis.
– Moderate rhizomelia & Renal anomalies : not easy to
recognize on US
• Delivered term.
• Clinical diagnosis : ATD
• Died due to respiratory distress

39. Correct diagnostic work up
a) Ext examn with photographs;
b) Post-mortem whole-body XR
c) Skin/ other tissue Bx
– chromosome analysis & preservation of fibroblasts for
possible later biochem, enzym,or genetc studies,
d) Complete autopsy by a pathologist exp in perinatal
pathology
• Counselling parents for future pregn, formulating
recurrence risk
• Designing strategies for prenatal monitoring &
diagnosis in future pregn

40. Thank you
Dr. Saneej K, DMRD, DNB (RD)
Radiologist