Fetal Spine and MSK Review

five sections of the fetal spine

cervical, thoracic, lumbar, sacrum, coccyx

echogenic laminae are normally angled

inwards

best way to assess vertebral ossification - c-spine

clavicles

best way to assess vertebral ossification - t-spine

heart or stomach

best way to assess vertebral ossification - l-spine

kidneys

best way to assess vertebral ossification - s-spine

bladder

coronal fetal spine

used to eval scoliosis and defects in the lateral curvature of the spine

strong indications for skeletal dysplasia

increased NT thickness in euploidy, access the femur with linear transducer

most lethal skeletal abnormalities are due to

severe pulmonary hypoplasia

dysotosis

any condition with abn bone ossification

maternal serum AFP

initially produced by YS then GI and liver, folic acid

most common neural tube defects

anencephaly and spina bifida

amelia

absence of an extremity (aplasia)

rhizomelia

shortening of the proximal bones of an extremity (femur/humerus)

mesomelia

shortening of the distal (or middle) bones of an extremity (radius/ulnar/tibia/fibula)

micromelia

shortening of an entire limb

acromelia

shortening of the distal segment of a limb (finger/toes)

phocomelia

proximal aspect of an extremity is absent; the hand/foot attaches directly to the trunk

acheira

absence of one or both hands

apodia

absence of one or both feet

acheiropodia

absence of the hands and feet

polydactyly

more than 5 digits

syndactyly

fusion of the digits (webbing)

clinodactyly

abn curvature of the 4th or 5th digits

ectrodactyly

lobster claw hand

sandal gap

excessive gap btwn the 1st and 2nd gap

trident hand

excessive gap btwn 3rd and 4th fingers

sandal gap is associated with

trisomy 21

rocker bottom foot (congenital vertical talus) is associated with

trisomy 9,13,18

club foot (talipes equinovarus)

foot rotated inverted and rotated medially

clubhand - radial clubhand (radial ray anomaly)

most common type, absent thumb, thumb hypoplasia, absent radius

ulnar clubhand

partial or complete absence of the ulna

spina bifida occulta

normal fetal head/brain, no change in AFP, not easily diagnosed sonographically, sacral dimple or tuft of hair

spina bifida aperta - spina bifida cystica

more common, increased AFP

rachischisis (myeloschisis)

most severe form, cleft throughout the entire spine

arnold chiari II malformation

banana sign is the most sensitive indicator

sacrococcygeal teratoma

most common congenital neoplasm, germ cell tumor, more frequently found in females, most commonly found in sacral region

scoliosis

abn lateral curvature of the spine, best evaluated in the coronal view

kyphosis

excessive posterior curvature of C/T spine, best evaluated in the sagittal view

heterozygous achondroplasia

most common non-lethal skeletal dysplasia, trident hand

heterozygous achondroplasia - sono

trident hand, frontal bossing

ellis-van creveld syndrome - chondroectodermal dysplasia

most common in amish communities

ellis-van creveld syndrome - chondroectodermal dysplasia - sono

short ribs, narrow thorax, polydactyly, cardiac defects - ASD, single atrium, abnormal upper lip

cleidocranial dysplasia

most common characteristic is clavicular aplasia or hypoplasia

osteogenesis imperfecta

brittle bone disease, fractures (bc decreased mineralization and poor ossifications), type I most common type (assoc. w deafness), type II lethal

osteogenesis imperfecta - type I

mildest and most common. leads to broken bones or muscle weakness. doesnt cause any bone deformity

osteogenesis imperfecta - type II

lethal, often cant breathe or die young. causes multiple broken bones in utero

asphyxiating thoracic dysplasia

pear shaped thorax, pelvic and renal anomalies

arthrogryposis

contraction and loss of movement in multiple joints, micrognathia, bilateral talipes, deformed elbows, wrists, ankles, knees and hips, genu recurvatum

holt oram syndrome

heart and hand syndrome, defects in the heart and upper extremities

CHILD syndrome

characterized by abnormalities on one side of the body, unilateral long bone deformities, hydronephrosis, renal agenesis, adrenal, ovary, thyroid, commonly seen in females

caudal regression syndrome - sono

absence of the sacrum and coccyx

amniotic band syndrome

entrapment of fetal parts that cause amputation of digits, limbs, skull, facial clefting

amniotic band syndrome - asymmetric

amniotic band sequence

amniotic band syndrome - symmetric

holoprosencephaly

homozygous achondroplasia

lethal short-limbed dysplasia, frontal bossing, cloverlead skull, severe rhizomelia

achondrogenesis

rare, lethal form of short limb dwarfism, hypomineralization

achondrogenesis - type I

parenti fraccaro (autosomal recessive)

achondrogenesis - type II

langer-saldino (autosomal dominant)

osteogenesis imperfecta - type II - sono

abnormalities in collagen, bell shaped thorax, poor ossification, hypomineralization, multiple rib and long bone fractures

thanatophoric dysplasia

most common lethal skeletal dysplasia, "death-bearing", cloverleaf skull, telephone receiver-shaped long bones (bowing)

thanatophoric dysplasia - sono

cloverlead, pulmonary hypoplasia, bowed femur, frontal bossing, acromelia

hypophosphatasia

bony demineralization, low levels of ALP, multiple fractures, reduced posterior shadowing from cranium, spine, and long bones

campomelic dysplasia "bent bone"

bowing of the femur and tibia

short rib polyfactyly

short ribs, narrow thorax, polydactyly or syndactyly

sirenomelia

mermaid syndrome, lower extremity fusion with abnormal or absent feet, associated with bilateral renal agenesis, oligohydramnios, and fetal death

limb body wall complex

body stalk anomaly; lethal, most severe form of amniotic band syndrome, at least 3 defects limb and anterior body wall defects

iniencephaly

short spine, abnormal posterior flexion of neck, fatal

VACTERAL association

vertebral anomalies

anal atresia

cardiac defects

tracheoesophageal fistula

renal anomalies

limb anomalies