Extended skeletal anomaly survey

Dr. K. Saneej DMRD DNB(RD)Radiologist ARMC IVF Fetal Medicine UnitKozhikode

26 yr primi 26 wks GAReferd as“short bones for evaltn”

BPD, HC, OFD, CI, BMD : Normal AC- Asym IUGR

Case 1

Short HL Short FL

Normal HandShort forearm

Normal Kidneys

Narrow thoraxProtuberant Abd

TL : < 3rd %tile of GA

Heart > 2/3rd , Lungs hypoplastic

TC : < 3rd %tile of GATC/AC = 0.55 ( N= >0.8)

• Thoracic & Lung biometry various methods

•Compare with available nomogramsChest restriction Pulm hypoplasiaSevere 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

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

Post natal• Severe Micromelia• Protuberant Abdomen• Extended arms• Abducted & externally

rotated thighs• Narrow chest• Normal trunk length• Short thoracic length• Hands & feet are normal

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” humeriSmall scapulaNormal claviclesTelephone receiver femora

Metaphyseal flaringThorn like projections in metaphyseal area

Autopsy• Hepatomegaly• Normal two Umbilical

arteries

Hypoplastic lungs

Diagnosis Thanatophoric Dysplasia Type- I

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

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.

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)”

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

11 Steps n Suspected Sk dysplasia

1) Measure all long bones2) Compare with other segm & classify

a) Rhizomeliab) Mesomeliac) Acromeliad) Severe micromelia

Bower man RA: anomalies of the fetal skeleton: sonographic findings AJR, 164:973, 1995

Expert level scanning

11 Steps n Suspected Skel dysplasia

3) Qualitative assessment of long bonesa) Demineralisationb) Fracturesc) Bowingd) Metaphyseal flaringe) Absence of bones

Hall CM, Washbrook J: REAMS: Radiological Electronic Atlas of Skeletal Malformation Syndromes. (1.0).2000.London, Oxford Press Electronic Publishing

11 Steps n Suspected Skel dysplasia

4) Chest dimensions- determine risk of pulm hypoplasia

5) Evaluation of hands & feeta) 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

11 Steps n Suspected Skel dysplasia6) Evaln of cranium

a) Macrocraniab) Frontal bossingc) Cloverleaf skulld) Hyper/hypotelorism

7) Facial clefts

• US of cong fetal anomalies, Paladini & Volpe : 2007. P. 282

11 Steps n Suspected Skel dysplasia

8) Examn of spinea) Platyspondylyb) Demineralisaionc) Hemi vertebraed) Coronal clefts

9) Vertebral disorganisationEvaln of internal organs + fetal ECHO

10) Fetal movement11) AFI

The fetal musculoskeletal system, pg 437, Ultrasonography in obstetrics & Gynecology , Peter W Callen 5th edition, 2008

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

HyperechoicEnlarged kidneys

Femur L

<2nd %tile

<2nd %tile

Radius L, Ulna L

Tibial L, Absent fibula

<2nd %tile

TC/AC = 0.6

<2nd %tile

Thoracic Circ

Abd Circ, Ascites<3rd %tile

Median cleft Lip

Spine: few under ossified vert bodies

CTEV

Fingers: Polydactyly

6

7

Brachydactyly

Double thumbExtra little finger

Polyhydramnios

ConclusionSevere micromeliaPulmonary hypoplasia ( Lethal)Fetal Ascitis & PolyhydramniosRenal DysplasiaPost & pre axial polysyndactylyBrachydactylyMedian Cleft lipAbsent Fibula, CTEV, under ossified

vertebral bodies

i. Short rib Polydactyly SyndromeType II (Majewski) or

IV ( Beemer- Langer)

Diagnosis

• 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

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

Dating Scan

Case III •19 yr primi•Nonconsanguinous marriage

Growth Scan

FL : < 5th %tile of GA ( - 2SD from mean)

Referred for higher Level scanning

Level II scanning Report

No ventriculomegaly

Case III Findings

FL < 1st %tile

HL < 4th %tile of GA

ULNA & RADIUS NORMAL

TIBIA & FIBULA NORMAL

Rhizomelic Short limbs

Hepatomegaly

Spleen : Normal

Ascites (+)

Narrow thorax

Right lobe length : < 3rd %tile

Transthoracic diameter : <1st %tile

Thoracic circ : < 1st %tileTC/AC : < 70 %

Absent LKRK seen

Grade I Echogenic bowel loops

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

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

Correct diagnostic work upa) Ext examn with photographs;b) Post-mortem whole-body XRc) 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

Thank youDr. Saneej K, DMRD, DNB (RD)

Radiologist