In this presentation we will discuss the role of sonographic imaging in evaluation of MSK dysplasias especially Lethal dysplasia. We can suggest which is not compatible with life.

1. Antenatal Ulrasound
Evaluation of MSK
Dysplasia
DR. MUHAMMAD BIN ZULFIQAR
PGR IV FCPS SERVICES INSTITUTE OF MEDICAL SCIENCES / HOSPITAL
RADIOMBZ@GMAIL.COM
Special Thanks to Sonoworld Team

2. Objectives
• To Detect MSK Dysplasia
• Characterize features of dysplasia
• Classify MSK Dysplasia
• To differentiate between lethal and non lethal dysplasia
• To address lethal dysplasia

3. Terminology
• Micromelia—Whole limb
• Rhizomelia—Proximal
• Mesomelia—mid bones
• Acromelia—Distal

4. MSK Dysplaisa
• More than 210 skeletal dysplasias are listed in The Gamut
Index, among them:
—19 are lethal or potentially lethal for the newborn.
—50 are clinically apparent and identifiable at birth.
—The prevalence of lethal skeletal dysplasia's is 0.9 per 10,000
births.
The association of severe micromelia, small thorax and
polyhydramnios were the initial clues to the diagnosis of
a lethal skeletal dysplasia.

5. Types— Basis of Severity
• Lethal
• Non lethal

6. Non lethal
• Most are non lethal
• Heterozygous achondroplasia
• Asphyxiating thoracic dysplasia
• Chondroectodermal dysplasia
• Chondrodysplasia punctata
• Congenital spondyloepiphyseal dysplasia
• Diastrophic dwarfism
• Metatrophic dwarfism
• Hypochondroplasia

7. Lethal dysplasia
• Typically manifest before 24 weeks GA
• Thanatophoric Dysplasia
• Osteogenesis Imperfecta type II
• Achondrogenesis type I and II
• Jeune Syndrome
• Homozygous achondroplasia
• Congenital hypoposphatasia
Continued

8. Lethal dysplasia
• Chondrodysplasia punctata, (rhizomelic type)
• Camptomelic dysplasia
• Short rib polydactyly syndrome
• Chondroectodermal dysplasia (usually
nonlethal)

9. Danger Signs in Dysplaisa
• Reduced Bone Density.
• Marked Bowing
• Fracture
• Telephone handle bones
• Narrow thorax
• Micromelia > Rhizomelia
• Cloverleaf skull
• Frontal Bossing
• Associated signs

10. Thanatophoric Dysplasia
• Most common lethal skeletal dysplasia in neonatal period.
• The name "thanatophoric" derives from the Greek meaning
"death bearing" or "death bringing",
• It is characterized by extreme rhizomelia, and a very narrow
thorax, (which leads to respiratory distress and respiratory
acidosis), normal trunk length, macrocephalia and
polyhydramnios.

11. Thanatophoric Dysplasia
• Two subtypes can be recognized by the presence or absence of curved
femurs.
1) Thanatophoric dysplasia type 1, the most common subtype,
characterized by curved and short femurs (shaped like a french
telephone receiver), platyspondyly (35 per cent or less of the adjacent
disk space in the lumbar spine). Very few type I cases have cloverleaf
skull, and it is always mild.
2) Thanatophoric dysplasia type II, presenting longer and straighter
femurs, taller vertebral bodies and almost always associated with
severe cloverleaf skull.

12. DD
• Achondroplasia—Mild limb shortening.
• OI type II—Observation of the fractures.
• Achondrogenesis—Extreme hypomineralization’
• Camptomelic dysplasia—Acute angulation of the mid
shaft bowing of the long bones.
• Trisomy 13 does not usually produce such short limbs.

13. Case 1—Thanatophoric Dysplasia
• A 30 year old woman at 25-week gestation.
Ana M. Bircher M.D., Fernando Heredia M.D., Philippe Jeanty M.D., Ph.D. 2002-09-25-11 Thanatophoric
dysplasia © Bircher www.thefetus.net

14. Hydrocephalous

15. • The following coronal plane 3D reconstructions
show the typical Kleeblattschädel or Cloverleaf
skull.

16. • Transverse mid face plane clearly show exophtalmos, and
the facial profile show frontal bossing and low nasal
bridge.

17. • Frontal bossing
• Flat nasal bridge
• Exophthalmos

18. Note the "bell-shaped" thorax seen on the images
below.

19. • The upper limbs were short, mostly rhizomelic and maintained a
right angle throughout all examinations.

20. • Lower limbs were as well very short and rhizomelic. The femurs
in these next images show the typical "telephone receiver" shape.

21. Post termination images

22. • Cloverleaf skull, short bones, narrow thorax

23. Case 2—Thanatophoric
Dysplasia

24. • Right. Ultrasonogram demonstrates a cloverleaf-like skull.
• Left. Rhizomelic micromelia with bowing of the humerus
is apparent (arrows). The skin appears thick because of
extreme redundancy.

25. The normal abdomen (arrows) is protuberant
compared with the small thorax.

26. Postmortem radiograph shows
generalized severe micromelia
and a constricted thorax. Bowing
is more apparent in the lower
extremities.

27. Case 2—Thanatophoric Dysplasia
• This is a 32-year-old woman, G5 P4 (4 previous normal
pregnancies) at 33 weeks of pregnancy. The findings are:
Severe hydrocephalus, Encephalocele, Low-set ears, Normal
calcification of calvarium, Frontal bossing, Depressed nasal
bridge, Exophtalmos, Short ribs, Narrow thorax, Severe rhizo-
micromelia of limbs, Bowed bones polyhydramnios, Normal
cardiac 4-chamber view and normal outflow tracts,
Alberto Hernandez , MD 2004-02-11-07 Thanatophoric dysplasia, type II © Hernandez www.thefetus.net/

28. Narrow Thorax

29. • Severe Hydrocephalous

30. Images suggestive of encephalocele (artery seen on
color Doppler, 3-D rendering)

31. • Low-set ears,
• Normal calcification of
calvarium,
• Frontal bossing
• Exophthalmos

32. • Short ribs
• Narrow thorax

33. Severe Rhizo / Micromelia

34. • Bowed bones
• Polyhydramnios

35. • Encephalocele with
sphenoid defect

36. • Normal 4-chambers heart with normal outflow
tracts
• Fingers

37. Osteogenesis Imperfecta
• Heterogeneous group of a generalized connective tissue
disorder leading to micromelic dwarfism characterized
by
• Bone fragility
• Blue sclera
• Dentinogenesis imperfecta
• This is a disorder of production, secretion, or function of Type I
collagen, which is found in skin, ligaments, tendons, demineralized
bone and dentine

38. Synonym of OI
• Van der Hoeve syndrome,
• Trias fragilitas osseum,
• Eddowe"s syndrome,
• Osteopsathyrosis ideopathica of Lobstein,
• Ekman-Lobstein disease,
• Osteogenesis imperfecta congenita,
• Osteogenesis type III lethalis,
• Brittle bone disease.

39. Osteogenesis Imperfecta
• Four types
• Type I—Autosomal dominant, most common, mild to
moderate
• Type II—Autosomal recessive, lethal form
• Type III—Autosomal Recessive, progressively deforming,
Compatible
• Type IV—Autosomal dominant, mildest, best prognosi
The placenta and amniotic fluid have been reported as normal

40. Elejalde et al Diagnostic Criteria for Lethal OI
• An abnormally shaped skull, trapezoid, with varying shape when the
mother coughed or laughed.
• Decreased echoes of the long and trabecular bones.
• Bell-shaped thorax, abnormal rib cage, and thin ribs with calluses.
• Wide metaphyses and thin diaphyses causing an angulated shape with
fractures and callus formation at all levels.
• Decreased fetal movement with no flexion-extension of the upper and
mostly lower limbs. No movements of the hands and feet.
Continued
Elejalde BR, de Elejalde MM. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet 14: 353-59, 1983

41. Elejalde et al Diagnostic Criteria for Lethal OI
• Soles face each other and the legs are bowed in the middle of the
tibia and fibula. There is angulation of all long bones.
• Very decreased movement of the hips in an abnormal pattern
with the lower limb moving only away/towards the midline with
limited range of motion. No movement of the knee or ankle.
• Long bone length less than normal for the gestational age.
Elejalde BR, de Elejalde MM. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet 14: 353-59, 1983

42. Case 1
• A 21-year-old G4P3 with three normal children at 20
weeks estimated gestational age for evaluation of
abnormalities found on routine ultrasound.
Anne V. Hale*, MD, Effie Medford, MD, Luis A. Izquierdo, MD, Luis Curet, MD 1992-11-25-19 Osteogenesis
imperfecta © Hale www.thefetus.net/

43. • Right. Poor ossification of skull bones which are easily compressible.
Left. Transverse scan of the fetal thorax showing multiple fractured ribs.

44. Right. Stillborn showing evidence of micromelia.
Left. Radiograph of the fetus showing fractured ribs and long bones (hypo mineralized).

45. Case 2
• A 22-year-old woman of a non-consanguineous marriage at 26-27 weeks old
singleton intrauterine pregnancy with several abnormal findings.
• This was her second pregnancy, and the first one ended as a miscarriage at
3rd month of the pregnancy.
• Her family history was not contributive and she did not take any drugs
during the pregnancy.

46. • Hypo mineralized compressible skull bones

47. • The images demonstrate narrow fetal thorax with short,
irregular ribs.

48. • The images show short, bent femur of the fetus. Note
that the both cortical layers of the femur are well
recognizable (arrows on the left image ).

49. Short, bent bones of the upper extremity of the fetus.

50. • 3D images; Right image shows abnormal, beaded ribs.
Left image 11 shows short upper limbs of the fetus.

51. • Right image shows short upper limb of the fetus;
• Left image shows the fetal profile and face with partially
opened eyes (not contributive to the diagnosis).

52. The images show appearance of the aborted fetus.

53. • X-ray images demonstrating the overall hypo mineralized
skeleton with short, bent, irregular long bones, narrow
bell-shaped thorax with abnormal ribs and extremely
hypo mineralized skull.

54. Case 3—15 weeks
Moshe Bronshtein, MD. 2014-11-24-21 Osteogenesis imperfecta type II © Bronshtein www.TheFetus.net

55. • Right— Hypo mineralized skull bones
• Left— Hypo mineralized deformed ribs

56. • The images show fractures of all long bones (femur, tibia,
radius), hypo mineralization of the bones (note that both
cortical parts of the long bones are clearly visible).

57. Case 4—14 Weeks
Moshe Bronshtein, MD. 2014-11-24-21 Osteogenesis imperfecta type II © Bronshtein www.TheFetus.net

58. • The images show fractures of the fetal femurs and blue
sclera.

59. Achondrogenesis
• Achondrogenesis is a skeletal dysplasia, which is characterized by
• extremely shortened limbs,
• normal to poorly ossified skull,
• poorly ossified spine and pelvis,
• severe pulmonary hypoplasia.
• Type I and II have been distinguished based on clinical, radiologic,
and histopathologic features..

60. Types
• Type I: (Parenti Fraccaro Disease)
• Defective enchondral and membranous ossification
• Type II: (Langer Saldino Disease)
• Defective enchondral ossification only

61. Prenatal diagnosis
• Based on the extreme micromelia
• Narrow thorax
• Poor mineralization of the skull and vertebrae.
• Polyhydramnios and a pseudohydropic appearance are also common.
• When the demineralization affects the skull and iliac wings the
presumptive diagnosis is Type I;
• when the skull appears normally mineralized the presumptive diagnosis
is Type II.
•

62. Achondrogenesis Type I:
Parenti-Fraccaro type
Achondrogenesis Type II:
Langer-Saldino type-
Hypochondrogenesis
• Extreme micromelia
• Large head
• Very short and thin ribs
• Multiple ribs fractures (type IA)
• Absent rib fractures (type IB)
• Poor ossification of skull, spine,
ischium, pubis, iliac bones
• Prominent forehead, flat face,
• Micrognathia
• Absence of rib fractures
• Normal calvarial ossification
• Various degrees of ossification of:
spine sacrum, ischial, pubic bones
• Hypochondrogenesis: absence of
ossification limited to the cervical
and sacral vertebrae and pubic bones
often a cleft palate

63. Case 1—Achondrogenesis I
• This is a case of a lethal skeletal dysplasia diagnosed at 14 weeks of
gestation.
• Ultrasound examination showed increased nuchal translucency, severe
micromelic shortening of all extremities, short, narrow thorax, protuberant
abdomen. The vertebral bodies were not ossified. Calvarium was enlarged
with bulging forehead and depressed nasal bridge.
• Patient decided for the termination of the pregnancy. The final diagnosis
based on the ultrasound findings and X-ray images was Achondrogenesis,
type I.

64. • Right. Fetal head
• Left. Narrow thorax with protuberant abdomen.

65. • Right. Image shows an increased nuchal translucency (image is
not taken in the neutral position of the head).
• Left Image shows radius and ulna.

66. • Right image shows humerus.
• Left image shows femur.
• Shortening of all long bones, less than 2nd percentile.

67. • Images show short, narrow thorax and protuberant abdomen.

68. • Fetus after the pregnancy termination, note shortening of
upper and lower extremities.

69. • Profile of the fetus with depressed nasal bridge, bulging
forehead and micrognathia.

70. • X-ray images of the fetus, note that vertebral bodies are non-
ossified and skull is poorly mineralized.

71. Case 2
Achondrogenesis I
A 22-YEAR-OLD, G1P0 WOMAN WAS REFERRED AT 21
WEEKS GESTATION FOR A PRENATAL ULTRASOUND
THAT DEMONSTRATED SHORT LIMBS AND
HYDROCEPHALUS. THE PATIENT AND HER HUSBAND
WERE CONSANGUINEOUS

72. • View of the head: note the absent mineralization of the
skull.
• Severe micromelia was confirmed with a femur length of 13
mm

73. The femur is short and so poorly mineralized that both sides
are visible.
The chest was hypo plastic and the heart, which appeared to
occupy the whole chest, compressed the lungs

74. • Absent mineralization of the spine and skull

75. • Absent mineralization of the spine and skull

76. Case 3
Achondrogenesis II
A 26-YEAR-OLD PREGNANT WOMAN AT 26 WEEKS IN
HER FIRST PREGNANCY DUE TO FETAL SHORT LIMBS

77. • Right. Dilated renal pelvis
• Mid. Narrow thorax
• Left. 3-D reconstruction of spine with short ribs

78. • Absent Sacrum
• Scapula and humerus
• The arm
• Small lower limb

79. • Lower limb
• Micrognathia

80. • Abnormal vertebral column with flat
vertebral bodies and absent ossification in
the sacral and upper cervical regions.
• The thorax was small with short ribs.
• The long tubular bones were shortened
without metaphyseal spiking.
• The widened metaphyseal regions gave
the humerus a dumbbell appearance.
• The pelvis was characterized by an
absence of ossification of the pubis,
hypoplastic iliac wings and flat acetabular
roofs

81. Case 4
Achondrogenesis II
A 25-YEAR-OLD WOMAN (G3P2), WITH NON-CONTRIBUTIVE
FAMILY HISTORY AND NEGATIVE EXPOSURE TO TERATOGENS, AT
11 WEEKS OF PREGNANCY DUE TO DETECTION OF FETAL
ANOMALIES.

82. • Images show increased nuchal translucency and
enlarged skull with flat nasal bridge of the fetus.

83. • Images show anasarca of the fetus and severe micromelia

84. Polydactyly

85. Severe micromelia.

86. • Ventricular septal defect of the heart.
• Enlarged fetal skull and increased nuchal translucency

87. • Narrow thorax
• Poorly mineralized vertebra
• Poorly developed pelvic bones
• Severe micromelia
• Enlarged skull

88. Asphyxiating Thoracic Dysplasia
(Jeune Disease)
• A rare autosomal recessive skeletal disorder
characterized by a
• small thorax;
• brachymelia, predominantly of the rhizomelic type;
• pelvic abnormalities (hypoplastic iliac wing), and
• renal anomalies.
• It has a variable phenotypic expression.

89. Asphyxiating Thoracic Dysplasia
(Jeune Disease)
• Flat, narrow chest (bell-shaped),
• with short, horizontal ribs
• associated with short limbs and brachydactyly seem to be the main features.
• The ribs do not reach more than halfway around the thorax.
• usually rhizomelic; square-shaped iliac wings.
• The long bone shortening might not become sonographic apparent until 24-26
weeks of gestational age.

90. • The fairly normal limbs length (note the angulation of the
femur and humerus).

91. • Short ribs causing a small narrow thorax

92. • Short ribs causing a small narrow thorax

93. Normal ribs
Cord Cyst

94. Narrow Chest

95. Case 2 Asphyxiating
Thoracic Dysplasia
LONGITUDINAL VIEW OF THE
CHEST AND ABDOMEN OF A
FETUS WITH ASPHYXIATING
THORACIC DYSPLASIA. NOTE
THE CONSTRICTION OF THE
CHEST

96. Hypophosphatasia
• Autosomal recessive anomaly due to defective bone mineralization
and deficiency of serum and tissue liver/bone/kidney alkaline
phosphatase
• Three Subtypes
• Lethal type 1 with prenatal manifestations of short demineralized long
bones, craniosynostosis and neonatal hypercalcemia; a
• Type 2 with rickets-like skeletal changes, fractures and premature loss of
teeth; and
• Type 3 with only metabolic anomalies detected on biochemical screening.

97. Case—
Hypophosphatasia
PATIENT AT 16 WEEKS GESTATION

98. • Right image shows hypoechoic skull and short humerus
next to it.
• Left image shows short femurs of the fetus.

99. • Sagittal views of the fetus - hypoechoic skull and
short long bones and narrow thorax can be seen.

100. • Images show short femurs and lower extremities of the
fetus.

101. After expulsion

102. Chondroectodermal Dysplasia—Ellis
Van Crevald Syndrome
• Autosomal recessive acromesomelic dwarfism—Mesodermal
Dysplasia
• Associated with congenital heart disease

103. Case 1—
Chondroectodermal
Dysplasia
30 WEEKS GESTATION

104. • Right image shows a transverse scan of the fetal head at 24 weeks
with brachycephalic configuration (BPD 90 mm, which corresponds to
36w6d of gestational age).
• Left image was taken at 30 weeks of pregnancy and shows the fetal
humerus measuring 39.6 mm, which corresponds only to 24w1d of
gestational age (rhizomelia).

105. • 30 weeks; the right image shows the fetal ulna measuring 42.1 mm,
which corresponds approximately to 27-28 weeks of pregnancy. The
left image shows the fetal femur measuring 40.3 mm,
corresponding only to 23 weeks of pregnancy (rhizomelia).

106. • 30 weeks; Right image shows the fetal tibia measuring
40.9 mm, corresponding approximately to 26-27 weeks.
Left image shows postaxial polydactyly of the fetal
hand.

107. Narrow thorax of fetus

108. • 30 weeks; the right image shows a transverse scan of the fetal abdomen - no
anomaly is seen.
• The mid image shows a transverse scan of the fetal thorax at the level of the
four-chamber view of the heart. The narrow thorax causes a relative
cardiomegaly of the heart. Atrioventricular septal defect was also present.
• Fetal gender (male).

109. • Narrow Thorax
• Postaxial Polydactyly

110. Case 2—
Chondroectodermal
Dysplasia

111. • Coronal views showing a normal thoracic relative to the
size of the abdomen and head.

112. • Postaxial polydactyly with the extra-digits each
containing two small bony phalanges was visualized in
both hands and feet.

113. Mild Pyelectasis
Profile face

114. All long bones are short

115. Chondrodysplasia Punctata
Definition: Erratic cartilage calcification during growth which produces the
heterogeneous group of disorders that results in small ossification centers in
the epiphyseal cartilage of the long bones and spine, skin lesions, cataracts,
craniofacial dysmorphism, joint contractures1,3 , and cardiac malformation.
In surviving children, abnormal growth leads to dysmorphism, kyphoscoliosis,
limb shortness, and luxation of the hip1,3,5 .

116. Classification
• Autosomal dominant type (non rhizomelic)
• Autosomal recessive type (rhizomelic)
• X- linked dominant type
• X- linked recessive type
• Sheffield, mild type

117. AR Chondrodysplasia Punctata
Potential sonographic findings:
•Skeletal: mild punctuate (stippled) calcific deposits in cartilaginous axial skeleton;
symmetric rhizomelic short limb dwarfism; joint contractures; foot deformities;
bowing of proximal limbs.
•Craniofacial: flat face; microcephaly; micrognathia; cataracts; cleft palate.
•Cutaneous abnormalities: ichthyosis.
•Congenital heart disease.
Radiologic findings:
•Symmetric shortening of the proximal bones.
•Punctate calcific deposits in infantile cartilaginous skeleton.
•Coronal clefts in the vertebra.

118. 00
Type Potential prenatal findings
Autosomal dominant Asymmetric mild shortening of humerus and femur, vertebral body deformities
and scoliosis, stippling epiphyses of the proximal humerus, bowing, flection
contracture of the joints, clubfoot, asymmetric head, frontal bossing, flat nasal
bridge, hypertelorism, cataracts, microophthalmia.
Autosomal recessive Stippled axial skeleton, symmetric rhizomelic short limbs, joint contractures, foot
deformities, bowing of the proximal limbs, flat face, microcephaly, micrognathia,
cataracts, cleft palate.
X- linked dominant Flat nasal bridge, frontal bossing, asymmetric shortening of the limbs, flexion
contractures, foot deformities, and scoliosis, polydactyly.
X- linked recessive Asymmetric mild shortening of the limbs, diffuse bone stippling, nasal
hypoplasia, cataracts, hypoplasia of the distal phalanges.
Sheffield, mild type Flattened tip of the nose, depressed nasal bridge, stippling of calcaneus bones.

119. Case—
Chondrodysplasia
Punctata
A 30-YEAR-OLD WOMAN G5, P4 PRESENTED FOR A ROUTINE ULTRASOUND SCAN. HER
OBSTETRIC HISTORY WAS SIGNIFICANT FOR A POSTNATAL FETAL LOSS AT 5 MONTHS OF
AGE DUE TO UNKNOWN METABOLIC ILLNESS OF THE FETUS.

120. • Long bones:

121. • Profile view of the face: A flat mid-face is seen.
• 2-D and 3-D scans of the femur: Punctate
epiphyseal calcifications as marked are seen.

122. • Images of the fetal spine: Punctations are seen.
• 3-D and 2-D views of the face at 32 weeks of gestation:

123. • 3-D and 2-D views of the face at 32 weeks of gestation:

124. • View of the right eye at 32 weeks: A cataract can be seen.
• View of the femur at 34 weeks of gestation

125. Case—2
Chondrodysplasia
Punctata

126. • The head shows poor mineralization (note that the proximal
hemisphere is visible):
• Profile view of the face. The left image demonstrates the binocular
distance. Flat mid-face is seen (note the small/absent nasal bone).
•

127. • 3-D view showing the flat saddle of the nose:
• A normal 4-chamber view and abdomen:
•

128. • The left and right humerus. Note the hypomineralization
seen as a bone that allows ultrasound to penetrate it:

129. Ulna, tibia and left femur:

130. Fibula and right ulna:
•

131. • Leg and femur

132. • View of the hand:
• View of the left leg and rocker bottom foot.

133. • View of the right foot between placenta and uterus.
• Images of fetal spine

134. Camptomelic Dysplasia
• Sporadic / Autosomal recessive
• Campomelic dysplasia is a congenital disorder characterized by
development of abnormal curvature of the long bones, particularly
from lower extremities, such as femur and tibia. Severe angulation
may mimic fracture.
• Types
• Long limbed
• Short limbed
Synonyms: Camptomelic dysplasia, campomelic syndrome, campomelic dwarfism, congenital bowing of the limbs

135. Camptomelic Dysplasia
•Associated with
• Hydrocephalus (23%)
• Congenital heart disease (30%): VSD, ASD, tetralogy, AS
• Hydronephrosis (30%)
• OB-US
• Bowing of tibia+ femur
• Decreased thoracic circumference
• Hypo plastic scapulae
• Cleft palate

136. Case 1—
Camptomelic Dysplasia

137. • Bowing of the ulna.
• Note the gentle curve that sometimes differentiate these
from the more acute angles of the osteogenesis
imperfecta fetuses.

138. Bowing of femur

139. Case 2—
Camptomelic Dysplasia
THIS IS A CASE OF A 33-YEAR-OLD G5 P4 WITH NON-CONTRIBUTIVE
FAMILY OR PERSONAL HISTORY AT 22 WEEKS OF GESTATION. THE FATHER
OF THE BABY WAS A FIRST DEGREE CONSANGUINEOUS. THE PREVIOUS
PREGNANCIES WERE UNCOMPLICATED AND ALL THE CHILDREN WERE
HEALTHY.

140. • 22 weeks, Right. image shows femur, Left image shows
tibia, fibula and foot. Femur measured 3 weeks less than
BPD.

141. • Right. image shows bowed long bones.
• Left image shows cervical spine with prominent lordosis.

142. • Right image shows clubfoot.
• Left image shows upper extremities with shortened and
bowed long bones.

143. • Right image shows cervical hyperlordosis.
• Left image shows small chest and prominent abdomen.

144. • Right image shows the axial view of the head with BPD.
• Left. image shows a bowed femur, FL lags 7 weeks
behind BPD and bowing with fine curvature.

145. • Polyhydramnios
• Pyelectasis

146. • Image shows bowed, shortened lower extremity with
clubfoot and foot hyperextension, arrow indicates the
typical skin dimple.

147. • 3-D images, Club feet and low set ears and depressed
nasal bridge.

148. • Right. Image shows the skin dimples.
• Left Image shows shortened, bowed extremities, note
short, small chest.

149. • X-rays, Right. image shows prominent occiput and
cervical hyperlordosis. Left Image shows small, barrel-
shaped chest, short upper extremities.

150. Case 3—
Camptomelic Dysplasia
A 25-YEAR-OLD WOMAN G2P1 AT 18 WEEKS THAT REVEALED A DISCREPANCY
IN THE FETAL MEASUREMENTS. THE GESTATIONALAGE DERIVED FROM THE
HEAD MEASUREMENT WAS 19 WEEKS, BUT IT WAS ONLY 14 WEEKS WHEN
DERIVED FROM THE LONG BONE MEASUREMENTS. THE ANAMNESIS OF THE
PATIENT WAS UNREMARKABLE EXCEPT FOR A COMMON COLD AT THE
BEGINNING OF PREGNANCY WITHOUT TEMPERATURE.
Anamnesis definition, the recollection or remembrance of the past;

151. Bowing of femur, tibia, ulna

152. Ulna, radius and humerus

153. • Bowed short bones, narrow thorax seen.

154. • Radiograph with bell-shaped thorax,
mild bilateral lunar bowing,
shortening and bowing of the whole
bones of lower extremities and hypo
plastic scapulae.

155. Short rib polydactyly
syndromes
Short rib polydactyly syndromes are lethal forms of skeletal dysplasia,
characterized by thoracic hypoplasia, polydactyly and shortening of the
long bones. Three types of the disorder were described:
 Type I: described by Saldino and Noonan in 1972
 Type II: described by Majewski in 1971
 Type III: described by Naumoff in 1977
Clinical, radiographic and morphologic studies suggest that
types I and III just represent phenotypic variations of the
same disorder.

156. Diagnosis
• Diagnosis: Prenatal diagnosis by ultrasound can
be accomplished by finding the characteristic triad
which includes micromelic dwarfism, short and
horizontal ribs with narrow thorax (what leads to
hypoplasia of the lungs), and polydactyly.

157. Type 1—(Saldino-Noonan):
• Short stature, Postaxial polydactyly of hands and/or
feet, syndactyly, underossified phalanges, Notch-like
ossification defect of vertebral bodies, small iliac bones,
triangular ossification defects above the acetabulum.
Cardiac, gastrointestinal, and urogenital malformations
can also be found. Occasionally preaxial polydactyly
and sex-reversal (46,XY with female phenotype) can
occur[

158. Type II (Majewski):
• Short stature with extremely short limbs, midline cleft lip,
cleft palate, short flat nose, low set and malformed ears,
preaxial and postaxial polysyndactyly of hands and feet,
premature ossification of proximal epiphyses of femur,
humerus and lateral cuboids, underossified phalanges,
high clavicles, and ambiguous genitalia. Less frequently,
hydrops and polyhydramnios can also be found.

159. Differential Diagnosis
• Thanatophoric dwarfism,
• Chondrodysplasia punctata,
• Osteogenesis imperfecta,
• Camptomelic dysplasia[7]
• Oro-facial-digital syndrome type II
Prognosis: SPRS are lethal conditions. Affected neonates usually die few hours after
birth from respiratory insufficiency, due to severe pulmonary hypoplasia5, 6.
Management: Termination of pregnancy can be offered before viability. Standard
prenatal care is not changed when continuing the pregnancy is opted. Confirmation of
diagnosis after birth is important for genetic counseling.

160. CASE 1—
Short Rib Polydactyly
Syndrome
A PRIMIGRAVIDA WITH A FIRST DEGREE CONSANGUINEOUS MARRIAGE
AT 22 WEEKS OF GESTATION.

161. • Markedly short ribs
• Polydactyly

162. • Right image shows abdominal circumference corresponding
with 17 weeks of gestation, note short ribs.
• Left Image shows a forearm with shortened ulna and radius.

163. • Short ribs

164. • Sagittal view of the shortened and thickened ribs
• Foot with sandal gap and polydactyly.
• Foot with shortened tibia and fibula and hand with
polydactyly.

165. • 3D-images showing shortened upper extremities, narrow
thorax, prominent forehead.

166. • Images showing short ribs, shortened and curved humeri
and forearms, genu recurvatum.

167. • Images of the fetus with postaxial polydactyly, genu
recurvatum, narrow, short thorax. Face shows abnormal
features, prominent forehead, broad, depressed nasal
bridge and protruding tongue.

168. CASE 1—
Short Rib Polydactyly
Syndrome
THIS IS A 22-YEAR-OLD WOMAN (G4, P2) WITH UNREMARKABLE FAMILIAR
HISTORY, AT 29 WEEKS OF GESTATION DUE TO A FETAL ASCITES.

169. • Shortened femur (left); and ulna (right).

170. • Shortened tibia (left); and polydactyly of the hand (right).

171. • Narrow Thorax

172. • Fetal Ascites
• Transverse plane through thorax

173. • Coronal plane through normal fetal lips and nose (left);
• Coronal plane through the fetal skull - normal (right).

174. • sagittal cranial plane - normal (left);
• Axial plane through the posterior fossa of the skull -
normal cerebellum with transcerebellar diameter
concordant with gestational age (right).

175. • Postnatal radiograms - bicycle handle like clavicles (left);
• Micromelia with dominant rhizomelia (right).

176. Achondroplasia
• Misnomer—More accurate term is Chondrodysplasia.
• Rhizomelic micromelia associated with frontal bossing
and low nasal bridge
• Two types:
• Heterozygous—Non lethal
• Homozygous—Lethal

177. Heterozygous Achondroplasia
• Prototype of rhizomelic dwarfism
• Autosomal dominant / sporadic (80%) disease with
quantitatively defective endochondral bone formation
• Related to advanced paternal age; epiphyseal maturation
+ossification unaffected

178. Homozygous Achondroplasia
• Hereditary AD disease with severe features of achondroplasia (disproportionate limb
shortening, more marked proximally than distally)
• Large cranium with short base + small face
• Flattened nose bridge
• Short ribs with flared ends
• Hypoplastic vertebral bodies
• Decreased interpedicular distance
• Short squared innominate bones, Flattened acetabular roof, Small sciatic notch, Short
limb bones with flared metaphysis , Short, broad, widely spaced tubular bones of
hand

179. DD between Achondroplasia
• At 26 weeks BPD age:
• Homozygous fetuses never had a femoral length that exceeded
34 mm. (progressive decrease in relative femoral length in the
second trimester)
• Heterozygous fetuses always had a femoral length that
exceeded 34 mm.
• Fetal femoral growth curves therefore allows the
distinction between homozygous, heterozygous and
unaffected fetus in the second trimester.

180. • Right. US scan of a homozygous achondroplastic fetus at 17.0 weeks
gestational age shows a morphologically normal femur (cursors).
• Left. US scan of a different homozygous achondroplastic fetus at 34.0
weeks gestational age shows an obviously short and thick femur with
metaphyseal flaring (cursors).

181. • Short ribs with flared ends, hypoplastic vertebral bodies (platyspondyly),
flat acetabular roof and small sciatic notches favor Homozygous
Achondroplasia

182. Type Skull Thorax Limb Spine Pelvis
Achondrogenesis
Type IA
(Houston-Harris)
poorly ossified short, round
chest with
multiple rib
fractures
very short, broad
tibiae & fibulae,
wedge-like
femora with
proximal
metaphyseal
spike
unossified
vertebral
bodies
hypoplastic arch-like
iliac bones
with short vertical
ischia
Achondrogenesis
Type IB
(Fraccaro),
poorly ossified short chest with
thin ribs, cupped
ends, no fractures
very short
with trapeziod
femora, crenated
tibiae, unossified
fibulae
unossified
vertebral
bodies
hypoplastic crenated
iliae
Achondrogenesis
Type II
(Langer-Saldino)
large
calvarium
with posterior
ossification
defect
barrel-shaped,
with short ribs
very short with
mild-moderate
metaphyseal
changes, long
fibulae
thoracolumbar
ossification
short iliae,
flat acetabular roots,
unossified pubic
bones, ossified ischia

183. Type Skull Thorax Limb Spine Pelvis
Kniest dysplasia frontal
flattening,
maxillary
hypoplasia,
shallow orbits
short ribs club-like
metaphyses,
delayed
ossification
of femoral heads
diffuse
flattening,
coronal clefts
small ilia,
increased
acetabular
angles with
irregular edges
Thanatophoric
dwarfism
frontal
bossing+ clover-
leaf
skull
narrow, pear-
shaped,
short, bowed,
with
metaphyseal
flaring
normal
ossification
small
sacrosciatic
notches,
spiculated
acetabulum
Osteogenesis
Imperfecta,
Type II
soft and
membranous
flail
chest at birth
short fracture liability normal

184. Type Skull Thorax Limb Spine Pelvis
Achondroplasia megalocephaly slight rib flaring rhizomelic,
with leg bowing,
trident hands
thoracolumbar
kyphosis,
lordosis
short iliac wings
Hypochondropla
sia
Normal Normal short vertebral canal
narrowed
Normal
Spondyloepiphy
seal dysplasia
Normal short barrel
chest, +
pectus carinatum
mild rhizomelic
shortening with
bowing
severe
kyphoscoliosis
retarded
ossification of
pubic bones

185. Type Skull Thorax Limb Spine Pelvis
Asphyxiating
thoracic dysplasia
Normal narrow, long,
short
anteriorly
cupped ribs
+ post-axial
polydactyly,
variably short
normal square, short
iliae, flat
acetabulae
Hypophosphatasia Thin and
membranous
markedly
reduced
ossification,
short
short with
bowing, long
bones are frayed
poor ossification
with hypoplastic
vertebrae
normal

186. Take Home Message
• Antenatal Sonography can differentiate between lethal /
non lethal dysplasia.
• Can differentiate between different lethal Dysplasia.
• Can suggest compatibility of life antenatally.

187. Thank you