This document summarizes several skeletal dysplasias that can be observed on prenatal ultrasound. It describes key features and prognosis for conditions including achondrogenesis, thanatophoric dysplasia, campomelic dysplasia, osteogenesis imperfecta, hypophosphatasia, asphyxiating thoracic dystrophy, diastrophic dysplasia, chondrodysplasia punctata, kniest dysplasia, isolated limb reduction, robert's syndrome, femur-fibula-ulna syndrome, holt-oram syndrome, thrombocytopenia absent radius syndrome, and cleidocranial dystosis. Many of these conditions are lethal, while others may

1. Dr. Omneya Nagy Elmakhzangy
Special Fetal Care Unit
Ain Shams University

2. Symmetrical

3. Achondrogenesis
 KEY Finding :
 1- Severe micromelia (shortened bones)
 2- Hypomineralization (bone unusally anechoic)
 3- Fetal hydrops + hydramnios (late)

4. Types
 Hint : All involve extremely short long bone and
severity is according to involvement of calvarium and
vertebral column.
 Type 1: Calvarium and Vertebral column severly
hypomineralized.
 Type 2 : Calvarium is ossified but veterbral column
may or may not be ossified
 Type 3: Mildest form where hypomineralization only
includes cervical and caudal vertebrae

5. Prognosis
 All 3 types are lethal at or before birth
 Recurrence is 1:4 in type1 and is a new Dominant
mutation in types 2 and 3 .

7. Thanatophoric Dysplasia
 Features:
 1- Short long bones well below the 3rd percentile
 2- Characteristic thickening of the metaphysis
 3-short splayed fingers (trident)
 4- Short ribs
 5- markedly small thorax
 6- Depressed nasal bridge + frontal bossing

8. Prognosis
 LETHAL
 Recurrence is low (dominant sporadic condition)

9. Trunchal Champagne Cork

12. Campomelic Dysplasia
 Features mainly in the lower limb :
 1- Short bowed femur , tibia and Fibula + marked
Talipes
 2- The whole lower limb is bowed inwards hint the
name (Campomelia) derived from a greek word campo
or campto meaning BENT.
 3- marked association with soft tissue involvement
(cardiac, renal and Brain)

13. Prognosis
 ¾ of the cases die during neonatal period due to
associated pulmonary hypoplasia the prognosis is
mainly dependent on other organ involvement
 Recurrence is around 5%

17. Osteogenesis imperfecta
 Poor bone mineralization
 Types 1-4
 Most common types is type 2
 Short, hypomineralized crumpling bones with
multiple fractures
 Criteria of Diagnosis : 1- Multiple fractures ,
2-hypoechoic skull , 3- Femur length more than 3 SD
below G.A

18. Prognosis
 Worst types in the prognostic views are type 2a,c and
type 3 and type 2 b is intermediate all causing poor
bone mineralization
 Types 2a,c and type3 are lethal and 2b is often lethal
 Types 1 and 4 are rarely diagnosed in IU life and
usually symptomatize later in post natal life

21. Hypophosphatasia
 Decreased bone mineralization due to deficiency in
alkaline phosphatase
 A spectrum of Severity from a lethal form close to
Osteogensis imperfecta with more severe angulation
in the fractures to a milder forms that can be
diagnosed later in early childhood.

22. Diagnosis
 Mainly by U/S finding of hypomineralization of bones
and confirmed by biochemical testing to the Amniotic
fluid for Alkaline Phosphatase , radiography , or
genetic testing of the parents.

23. Prognosis
 Autosomal recessive types are lethal
 Autosomal dominant types tend to be milder and
improve with age

26. Homoygous Achondroplasia
 Result from two parents who are heterogygous
achophondroplasia and the fetuses usually perish early
in gestation and so is rarely deen

27. MODERATE SYMMETRICAL

28. Asphyxiating thoracic Dystrophy
(Jeune)
 The main feature in this condition is a small chest in a
high risk family limb shortening is variable and may
not be apparent till 3rd trimester
 Soft tissue involvement renal , hepatic and pulmonary
with post axial polydactyly.

29. Prognosis
 70% of live born die from RDS
 Survivors are small in size and suffer from the
systemic complications associated with the disorder ,
intelligence is normal though

30. Short ribbed polydactyly
Syndromes
 Small Narrow thorax + short limbs + polydactyly +
specific feature for each type
 Type 1 : (SALDINO- NOONAN Syndrome)
- Micromelia with pointed ends in long bones
- Urogenital and anorectal anomalies

31.  Type 2 (MAJEWKSKI SYNDROME)
- Median cleft lip/palate and disproportionally
short tibiae

32. Prongnosis
 LETHAL Secondary to respiratory faliure

34. Chondrodermal Dysplasia
(ELLIS_VAN CREVELD SYNDROME)
 Upper limb Mesomelia (Short radius and ulna) +
polydactyly in hands + small thorax
 Highly Associated Congenital heart disease as ASD
once diagnosed fetal Echo is recommended

35. Prognosis
 Survivors have normal intelligence but final height
(105-150 cm)
 Inheritance is autosomal recessive recurrence of 25%

36. Diastrophic Dysplasia
 Rhizomelic shortening ( shortening of the proximal
long bones (humerus and femur) +bowing +
hitchhicker thumb + talipes
 Identification of a normal thumb can help exclude
diagnosis

37. Prognosis
 A significant number die of respiratory faliure and
pneumonia
 Those who survive have normal intellect but
progressive handicap.


38. Chondrodysplasia Punctata
 X-linked dominant : seen in females and lethal in
heterozygous males
 X-linked recessive : moderate shortening of long bones
+ EPIPHESYEAL ECHOGENICITES affected intellect
, heterozygous female carriers are clinically free and
rather short.
 Rhizomelic form : humerus is more affected

39. Prognosis
 Many Newborn die of respiratory faliure survivors fail
to thrive with microcephaly

41. Kniest Dysplasia
 Moderately short dumbbell- shaped long bones +
restricted joint mobility + depressed nasal bridge+
platyspondyly .
 Affected children have normal intellect but short
stature and limited joint mobility

43. Heterozygous achondroplasia
(Dwarfism)
 The most well recognized dysplasia in general
population , with short stature but well integrated
members of the society.
 Acromesomelic limb shortening + stubby abducted
fingers (trident hand) + wide prominent forehead
(frontal bossing) + hypertelorism

45. Short long Bones : Asymmetrical

46. Isolated limb Reduction
 Asymmetrical reduction of a limb or part of a limb
 Majorly are non genetic but can occur as a part of
genetic syndrome or chromosomal abnormality.
Karyotyping and thorough sonography is
recommended.
 With no other associations prosthestics and
orthopedic surgery function and shape can be restored

47. Robert’s Syndrome
(pseudothalidomide Syndrome)
 All 4 limbs affected (tetraphocomelia)+ median facial
clefting+ microcephaly + talipes+ extremely short of
missing fingers or toes .
 Other assciated anomalies include hydrocephalus ,
encephalocele , renal anomalies.

48.  High perinatal mortality
 Severe IUGR
 Survivors are profoundly mentally retarded

49. Femur-Fibula-Ulna Syndrome
 From its name the Syndrome is mainly affection of
femur and fibula with varying degrees of ulnar
affection.

50. Holt-Oram Syndrome
 Upper limb and limb girdle reductions
 A cardinal feature is association with congenital heart
disease
 More in females and more on left than right.
 A Dominant condition 50% of affected inndividual’s
offsprings will be affected

51. Thrombocytopenia absent radius
symdrome
 TAR , could be confirmed by bilateral radial
aplasia/hypoplasia .
 Thrombocytopenia is a marker of heampoietic
abnormality.
 Autosomal recessive condition with 25% recurrence

52. Cleidocranial Dystosis
 Hypoplastic clavicles
 De novo presentations are usually missed as clavicle is
not routinely surveyed
 Affected skull mineralization

54. Thank You