Non lethal skeletal anomalies

Most common non-lethal skeletal dysplasia

Heterozygous achondroplasia

Heterozygous achondroplasia

Autosomal dominant disorder

Macrocrania

Flattened nasal bridge with frontal bossing

Trident hand

May be missed on routine second tri exam if performed at 20 weeks or earlier

Rhizomelia identified between week 21-27

Spinal lordosis

Ellis van Creveld syndrome

Chondroectodermal dysplasia

Autosomal recessive disorder

MOST COMMON IN AMISH communities

Mild-moderate mesomelia

Short ribs, narrow thorax

Polydactyly

Cardiac defects - ASD, single atrium

Abnormal upper lip

Severe cases can be fatal

Remember these 4 things for Ellis van Creveld syndrome

Short ribs, narrow thorax

Cardiac septal defects

Mesomeila

Polydactyly

Osteogenesis imperfecta

Type 1, 3 and 4 are milder forms than type 2

Type 1 - MOST COMMON, associated with deafness

Type 3- Thick, irregular bones and micromelia

Type 4- Hypomineralization, mild micromelia, mild bowing of long bones, shortening of long bones, bell-shaped thorax

Dysostosis

Any condition with abnormal bony ossification

Cleidocranial - Widening of the cranial fontanelles w/increased cranial width

Craniofacial - Midface hypoplasia

Associated with syndactyly

Cleidocranial Dysplasia

Autosomal dominant condition

Most common characteristic is clavicular aplasia or hypoplasia

Also seen with brachycephaly and midface hypoplasia

Short straight clavicle

Asphyxiating thoracic dysplasia

Jeune dystrophy

Pear-shaped thorax

Micomelia

Polydactyly

Associated with pelvic/renal anomalies

Disease is usually severe, but not always fatal

Osteogenesis imperfecta

Radial ray anomalies

Abnormal radial development; hypoplasia or aplasia

Type 1: radius is slightly shortened and hand curves sideways at wrist

Type 2: Radius is very short and the ulna curves sideways

Type 3: Absence of portion of radius

Type 4: Complete absence of radius

Associated with Trisomy 18, Holt-Oram syndrome, amniotic band syndrome

Arthrogryposis

Contraction and loss of movement in multiple joints

Increases in severity as you move distally from trunk

Affects upper and lower extremities

Suspected with significant lack of fetal movement and flexion deformities

Genu recurvatum - hyperextension of the knee, it bends backwards

Nuchal edema

Polyhydramnios

Arthrogryposis us associated with

Micrognathia, bilateral talipes, deformed elbows, wrists, ankles, knees and hips

Remember these 2 things for arthrogryposis

Contracted and fixated joints

Genu recurvatum (hyperextension of knee)

Sandal gap toes

Gap between 1st and 2nd toe bones

Can be normal variant

Associated with trisomy 21

Club foot

Congenital talipes equinovarus

Affected foot appears rotated internally at the ankle with an eccentric junction between the calcaneus and tarsal bones

Best evaluated by identifying a sagittal view of lower leg

See deformity in multiple views

50% of cases are bilateral

Mostly isolated

Associated with spina bifida

Club foot can be caused by…

Oligohydramnios, amniotic band syndrome and extrinsic compression

Club foot occurs more in ______ than females by a ratio of 2:1

Males

Radial clubhand

Associated with absent thumb, thumb hypoplasia, thin first metacarpal, and absent radius

MOST COMMON type of clubhand

Associated with congenital scoliosis

Usually associated with a syndrome

Ulnar clubhand

Mild deformities of the ulnar side of the hand, partial or complete absence of the ulna

Usually an isolated anomaly

Rocker bottom foot

Congenital vertical talus

Best evaluated by a sagittal view of lower leg

Normally the foot is seen in profile when the long bones are visible

Rocker bottom foot demonstrates prominent calcaneus and a convex rounded bottom to the foot

Associated with Trisomy 9, Trisomy 13, and 18

CHILD syndrome

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Characterized by abnormalities on one side of the body

Unilateral long bones deformities, unilateral hydro, unilateral agenesis of kidney, adrenal gland, ovary, thyroid

Associated with congenital heart defects

MOST COMMONLY SEEN IN FEMALES

Holt Oram Syndrome

Heart and Hand syndrome

Defects are seen in cardiac anatomy and upper extremity

Defects are more severe on left side

Strawberry skull and radial ray anomalies are common in a Trisomy __

21

Ellis van Creveld syndrome is an ___________ disorder that is commonly seen in _________

Autosomal recessive; Amish communities

What cardiac defect is common in Ellis van Creveld syndrome

ASD

All the following are commonly associated with Radial ray anomalies except:

Trisomy 18

Turner syndrome

Holt oram syndrome

Amniotic band syndrome

Turner syndrome

Genu Recurvatum is a finding seen with:

Arthrogyroposis

How does club foot appear on US

The bottom of the foot in the same plane as the long bones

Which of the following is typically an isolated finding?

Osteogenesis imperfecta

Rocker bottom foot

Ulnar club hand

All of the above

Ulnar club hand