Sonographic evaluation of msk dysplasia Dr. Muhammad Bin Zulfiqar

Antenatal Ulrasound Evaluation of MSK DysplasiaDR. MUHAMMAD BIN ZULFIQARPGR IV FCPS SERVICES INSTITUTE OF MEDICAL SCIENCES / HOSPITAL

RADIOMBZ@GMAIL.COM

Special Thanks to Sonoworld Team

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

• To address lethal dysplasia

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

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.

Types— Basis of Severity• Lethal

• Non lethal

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

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

Lethal dysplasia

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

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

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.

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.

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.

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

Hydrocephalous

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

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

• Frontal bossing• Flat nasal bridge• Exophthalmos

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

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

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

Post termination images

• Cloverleaf skull, short bones, narrow thorax

Case 2—Thanatophoric Dysplasia

• 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.

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

thorax.

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

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/

Narrow Thorax

• Severe Hydrocephalous

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

• Low-set ears,  • Normal calcification of calvarium, 

• Frontal bossing• Exophthalmos

• Short ribs• Narrow thorax

Severe Rhizo / Micromelia

• Bowed bones• Polyhydramnios

• Encephalocele with sphenoid defect

• Normal 4-chambers heart with normal outflow tracts

• Fingers

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

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.

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

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.

ContinuedElejalde BR, de Elejalde MM. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet 14: 353-59, 1983

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

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/

• Right. Poor ossification of skull bones which are easily compressible.

Left. Transverse scan of the fetal thorax showing multiple fractured ribs.

Right. Stillborn showing evidence of micromelia.

Left. Radiograph of the fetus showing fractured ribs and long bones (hypo mineralized).

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.

• Hypo mineralized compressible skull bones

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

• 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 ).

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

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

• 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).

The images show appearance of the aborted fetus.

• 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.

Case 3—15 weeks

Moshe Bronshtein, MD. 2014-11-24-21 Osteogenesis imperfecta type II © Bronshtein www.TheFetus.net

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

• 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).

Case 4—14 Weeks

Moshe Bronshtein, MD. 2014-11-24-21 Osteogenesis imperfecta type II © Bronshtein www.TheFetus.net

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

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..

Types• Type I: (Parenti Fraccaro Disease)

• Defective enchondral and membranous ossification

• Type II: (Langer Saldino Disease)• Defective enchondral ossification only

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.

•

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

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.

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

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

• Left Image shows radius and ulna. 

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

• Images show short, narrow thorax and protuberant abdomen.

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

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

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

Case 2 Achondrogenesis IA 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

• View of the head: note the absent mineralization of the skull.

• Severe micromelia was confirmed with a femur length of 13 mm

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 

• Absent mineralization of the spine and skull

• Absent mineralization of the spine and skull

Case 3 Achondrogenesis II

A 26-YEAR-OLD PREGNANT WOMAN AT 26 WEEKS IN HER FIRST PREGNANCY DUE TO FETAL SHORT LIMBS

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

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

• Lower limb• Micrognathia

• 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

Case 4 Achondrogenesis IIA 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. 

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

• Images show anasarca of the fetus and severe micromelia

Polydactyly

Severe micromelia.

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

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

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.

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.

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

• Short ribs causing a small narrow thorax

• Short ribs causing a small narrow thorax

Normal ribsCord Cyst

Narrow Chest

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

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.

Case—HypophosphatasiaPATIENT AT 16 WEEKS GESTATION

• Right image shows hypoechoic skull and short humerus next to it.

• Left image shows short femurs of the fetus.

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

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

After expulsion

Chondroectodermal Dysplasia—Ellis Van Crevald Syndrome

• Autosomal recessive acromesomelic dwarfism—Mesodermal Dysplasia

• Associated with congenital heart disease

Case 1—Chondroectodermal Dysplasia30 WEEKS GESTATION

•  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).

• 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).

•  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. 

Narrow thorax of fetus

• 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).

• Narrow Thorax• Postaxial Polydactyly

Case 2—Chondroectodermal Dysplasia

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

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

Mild PyelectasisProfile face

All long bones are short

Chondrodysplasia PunctataDefinition: 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 .

Classification

• Autosomal dominant type (non rhizomelic)

• Autosomal recessive type (rhizomelic)

• X- linked dominant type

• X- linked recessive type

• Sheffield, mild type

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.

00

Type Potential prenatal findingsAutosomal 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.

Case—Chondrodysplasia PunctataA 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.

• Long bones:

• 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.

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

gestation:

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

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

• View of the femur at 34 weeks of gestation

Case—2Chondrodysplasia Punctata

• 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).

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

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

Ulna, tibia and left femur:

Fibula and right ulna:

• Leg and femur

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

• View of the right foot between placenta and uterus.

• Images of fetal spine

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 limbedSynonyms: Camptomelic dysplasia, campomelic syndrome, campomelic dwarfism, congenital bowing of the limbs

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

Case 1—Camptomelic Dysplasia

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

Bowing of femur

Case 2—Camptomelic DysplasiaTHIS 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.

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

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

lordosis.

• Right image shows clubfoot. • Left image shows upper extremities with

shortened and bowed long bones.

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

abdomen.

•  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.

• Polyhydramnios• Pyelectasis

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

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

• Right. Image shows the skin dimples. • Left Image shows shortened, bowed extremities,

note short, small chest.

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

Case 3—Camptomelic DysplasiaA 25-YEAR-OLD WOMAN G2P1 AT 18 WEEKS THAT REVEALED A DISCREPANCY IN THE FETAL MEASUREMENTS. THE GESTATIONAL AGE 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; 

Bowing of femur, tibia, ulna

Ulna, radius and humerus

• Bowed short bones, narrow thorax seen.

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

Short rib polydactyly

syndromesShort 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.

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.

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[

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. 

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.

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

• Markedly short ribs• Polydactyly

• Right image shows abdominal circumference corresponding with 17 weeks of gestation, note short ribs.

• Left Image shows a forearm with shortened ulna and radius.

• Short ribs

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

with polydactyly.

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

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

• 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.

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

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

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

• Narrow Thorax

• Fetal Ascites• Transverse plane through thorax

• Coronal plane through normal fetal lips and nose (left);

• Coronal plane through the fetal skull - normal (right).

• sagittal cranial plane - normal (left); • Axial plane through the posterior fossa of the

skull - normal cerebellum with transcerebellar diameter concordant with gestational age (right).

• Postnatal radiograms - bicycle handle like clavicles (left);

• Micromelia with dominant rhizomelia (right).

Achondroplasia• Misnomer—More accurate term is Chondrodysplasia.• Rhizomelic micromelia associated with frontal

bossing and low nasal bridge• Two types:

• Heterozygous—Non lethal• Homozygous—Lethal

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

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

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.  

• 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).

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

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 metaphysealspike

unossified vertebral bodies

hypoplastic arch-like iliac boneswith short vertical ischia

Achondrogenesis Type IB (Fraccaro),

poorly ossified

short chest with thin ribs, cupped ends, no fractures

very shortwith 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 metaphysealchanges, long fibulae

thoracolumbar ossification

short iliae,flat acetabular roots, unossified pubic bones, ossified ischia

Type Skull Thorax Limb Spine Pelvis

Kniest dysplasia

frontal flattening, maxillary hypoplasia,shallow orbits

short ribs club-like metaphyses, delayed ossificationof femoral heads

diffuse flattening, coronal clefts

small ilia,increased acetabular angles with irregular edges

Thanatophoric dwarfism

frontal bossing+  clover-leafskull

narrow, pear-shaped,

short, bowed, with metaphyseal flaring 

normal ossification

small sacrosciatic notches, spiculated acetabulum

Osteogenesis Imperfecta, Type II

soft and membranous

flailchest at birth

short fracture liability

normal

Type Skull Thorax Limb Spine Pelvis

Achondroplasia

megalocephaly slight rib flaring

rhizomelic,with leg bowing, trident hands

thoracolumbar kyphosis, lordosis 

short iliac wings

Hypochondroplasia

Normal Normal short vertebral canalnarrowed

Normal

Spondyloepiphyseal dysplasia

Normal short barrel chest, +  pectus carinatum

mild rhizomelic shortening with bowing

severe kyphoscoliosis

retarded ossification of pubic bones

Type Skull Thorax Limb Spine Pelvis

Asphyxiating thoracic dysplasia

Normal narrow, long, shortanteriorly 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 ossificationwith hypoplastic vertebrae

normal

Take Home Message• Antenatal Sonography can differentiate between

lethal / non lethal dysplasia.• Can differentiate between different lethal

Dysplasia.• Can suggest compatibility of life antenatally.

Thank you