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Flashcards in Musculoskeletal Anomalies Deck (40)
0

Narrowing thorax suggests

A lethal dysplasia

1

Thenatophoric Dysplasia

MC lethal

Extreme micromelia: short bowed limbs
Long bone narrowing
Narrow thorax
Protruding abdomen
Short ribs
Hypomineralization

Champagne cork appearance
Cloverleaf skull (Type 2)

2

Achondroplasia

MC non lethal

AMA
Dwarf

Rhizomelia (short prox limb)
Limb bowing
Short fingers
Macrocephaly
Frontal bossing
Hydrocephaly
Saddle nose
Head/FL discrepancy
Biometry may be normal before 22 wks

*homozygous form is lethal

3

Achondrogenesis / Anosteogenesis

2nd MC lethal

Type 1 (Parenti-Faccaro): micromelia, narrow short thorax, short ribs, polydactyly,

Type 2 (Langer-Saldino): MC, more severe, extreme micromelia, short thorax, protruding abd, dec ossification of spine, fractures, Hypomineralization, hydrops, poly, anasarca

4

Short Rib-Polydactyly Syndrome

Fatal

Polydactyly
❤️ anomalies
GU anomalies
Cleft lip

Micromelia, narrow thorax, short ribs

5

Jeune Syndrome / Asphyxiating Thoracic Dysplasia

Range of severity. Most severe is lethal

Funnel shape thorax
Mesomelia, Short extremities. Rhizomelia (short prox limb). Short ribs. Renal dysplasia. Polydactyly.

6

Chondroectodermal Dysplasia / Ellis-Van Crevald Syndrome

Inc in Amish
Small thorax, short limbs, polydactyly
ASD

7

Osteogenesis Imperfecta

Inherited collagen disorder
4 types
Hypomineralization

Type 1: MC, mild, fractures after birth, 35% deaf

Type 2: most severe, lethal. Short long bones, short ribs, multiple fractures, poor ossification. Hypomineralized skull, see hemispheres clearly. No shadow. Compressible head with transducer pressure

Type 3: severe. Fractures, long bone shortening, poor prognosis.

Type 4: mildest, occasional fractures. Short.

8

Camptomelic Dysplasia

Lethal

*bowed short long bones
Small fibula
Hydronephrosis
Hypertelorism
Narrow thorax
Hydrocephaly
Cleft palate
Micrognathia
Polyhydramnios

9

Congenital Hypophosphatasia

Diffuse severe Hypomineralization, death after birth
Alkaline phosphatase deficiency
Polyhydramnios, compressible calvarium, short bowed limbs, fractures, short beaded ribs

10

Polydactyly

Trisomies 13, 18, 21, skeletal Dysplasia

11

Radial Ray Defect / Radial Aplasia

Clubbed hand

Tri 13, 18, vacterl, holt oram, tar syndrome, oligohydramnios

12

Talipes/Clubfoot

Oligohydramnios, caudal regression, lead & rat poison

13

Arthrogryposis Multiplex

Abnl contracture of limbs

14

Lobster Claw / Ectrodactyly

Cleft hand

15

Holy Oram Syndrome

Absent thumbs
CHD/ASD, phocomelia

16

TAR syndrome / Thrombocytopenia Absent Radius Syndrome

Blood disorder dec platelets
Absent radius
Turned back clubbed hand appearance.

17

VACTERL

Need 3 to make assoc

Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheo
Esophageal Fistula
Renal Anomalies
Limb Dysplasia

18

Sirenomelia / Mermaid Syndrome

Caudal regression syndrome
Fused lower limbs

Oligo, renal agenesis, MCDK, SUA

19

Roberts Syndrome / Pseudothalidamide Syndrome

Caused by thalidomide drug used 1960 for nausea in pregnancy

Phocomelia
Cleft lip/palate
Microcephaly
IUGR

20

Diastrophic Dysplasia

Talipes
*Hitchhikers thumb
Micromelia
Scoliosis
Micrognathia
Cleft palate

21

Primordial Dwarfism

Proportionate dwarf. Squeaky voice

22

Pseudo trisomy 18 syndrome / Pena Shokeir Syndrome

Fixed extremities with clenched hands. Severe edema, thick skin

23

Acheiria

Absent hand(s)

24

Acromelia

Short distal limbs (hand/feet)

25

Adactyly

Absent digits

26

Amelia

Absent limb(s)

27

Apodia

Absent foot/feet

28

Camptomelia

Bowed long bones

29

Clinodactyly

Overlapping digits

30

Ectrodactyly

Cleft hand/feet

31

Hemimelia

Absent extremity below knee/elbow

32

Mesomelia

Short middle limb (tib/fib/rad/ulna)

33

Phocomelia

Hands/feet attached to trunk

Assoc with thalidomide drug use, Pseudothalidamide syndrome/Roberts syndrome

34

Polydactyly

Extra digits

35

Pterygium

Webbing of skin at joints & lack of muscle movement

36

Rhizomelia

Short prox limbs (hum/femur)

37

Micromelia

Short limbs

38

Syndactyly

Abnl connection of digits

3rd & 4th fused digits assoc with triploidy

39

Talipes / Club foot

MC talipes equinoveras