chapter 26 : The fetal spine and muskuloskeletal system

Sonographic Findings of Spina Bifida Aperta

* splaying of the laminae in the area of the defect *cystic mass (meningocele) or complex mass (myelomeningolcele) protruding from the spine *Lemon sign *banana sign *obliterated cisterna magna *colpocephaly * Hydrocephalus

sonographic findings of Limb-body wall complex

*short *marked scoliosis *various other anomalies including craniofacial and limb defects.

Autosomal Dominant

The form of inheritance in which at least one parent has to be a carrier of an abnormal gene for it to be passed to the fetus is :

spinal dysraphism

a group of neural tube defects that describe some manifestation of incomplete closure of the spine

clubfoot

a malformation of the bones of the foot in which the foot is most often inverted and rotated medially and the metatarsals lie in the same plane as the tibia and fibula

triple screen

a maternal blood test that typically includes an analysis of HCG , alpha-fetaprotien, and estriol

trident hand

a wide separation between the middle and ring finger

Rockerbottom foot

abnormal curved shape of the sole of the foot

sacral dimple

an opening in the skin over the distal spine

heterozygous achondroplasia

most common nonlethal skeletal dysplasia that is characterized that is characterized by rhizomelia

anencephaly

neural tube defect that is described as the absence of the cranium and cerebral hemispheres.

Achondrogenesis

rare , lethal condition resulting in abnormal development of the bones and cartilage

Acromelia

shortening of the distal segment of a limb

mesomelia

shortening of the middle segment of a limb

Rhizomelia

shortening of the proximal segment of a limb

rhizomelia

shortening of the proximal segment of a limb

caudal regression syndrome

syndrome associated with the absence of the sacrum and coccyx; also referred to as sacral agenesis

cloverleaf skull

the abnormal shape of the cranium caused by premature fusion of the sutures in which there is frontal bossing and a cloverleaf shape to the skull

kyphoscolosis

the combination of both scoliosis and kyphosis in the fetus

Caudal regression syndrome

the condition associated with the absence of the sacrum and coccyx:

homozygous achondroplasia

the fatal form of achondroplasia

sacral agenesis

the nondevelopment of the sacrum

sirenomelia

(mermaid syndrome) a fetal abnormality characterized by fusion of the lower extremities, renal agenesis, and oligohydraminos

sonographic findings of caudal regression syndrome

* Absent sacrum (Sacral Agenesis) and possibly part of the lumbar vertebra *Possible abnormalities in the lower extremities like clubfeet

Osteogenesis imperfecta

A bell shaped chest and multiple fetal fractures are indicative of :

Thanatophoric dysplasia

A cloverleaf skull and hydrocephalus is seen with :

Achondroplasia

A disorder that results in abnormal bone growth and dwarfism is

Radial Ray defect

Absence of the radius is referred to as :

Absent Mineralization of the skull

Achondroplasia is associated with all the following except: a. frontal bossing b. flattened nasal bridge c .trident hand d .absent mineralization of the skull

Decreased MSAFP

All of the following are clinical or sonographic findings consistent with limb-body wall compex except... a. Ventral wall defects b. decreased MSAFP c. marked scoliosis d. shortened umbilical cord

Clinical findings for Spina Bifida Aperta

Elevated MSAFP

Sirenomelia

Fusion of the legs (mermaid syndrome)

Limb

In VACTERL association, the letter "L" stands for :

Tridenent hand

Increase space between the third finger and fourth finger

Phocomeningocele

Sonogrpahically, you visualize a mass extending from the distal spine of a fetus. This mass could be all the following except: A. sacrococcygeal teratoma b. meningocele c. meningomyelocele d. phocomenigocele

clubfoot

Talipes Equinovarus is associated with ?

Scoliosis

The abnormal curvature of the spine

Acoustic Shadowing

The artifact seen posterior to solid structures such as fetal bone is referred to as :

Arnold-Chiari Malformation

The group of fetal head and brain abnormalities that often coexists with spina bifida is referred to as :

Achondroplasia

The most common nonlethal skeletal dysplasia is :

Massa Intermedia

The thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold- Chiari ll malformation is :

Osteogensis imperfecta

Upon sonographic interrogation of a 28 week pregnancy, you note that when pressure is applied to the fetal skull, the skull can be easily distorted. This is sonographic evidence of :

Sirenomelia

What condition is associated with bilateral renal agenesis , oligohydraminos, and fusion of the lower extremities ?

achondroplasia

a disorder that results in abnormal bone growth and dwarfism

limb-body wall complex

a group of disorders with sonographic findings including a short or absent umbilical cord, ventral wall defects, limb defects, craniofacial defects, and scoliosis

radial ray defect

absence or underdevelopment of the radius

Phocomelia

absent long bones with the hand and feet arise from the shoulders and hip

Talipes Equiovarus

also known as clubfoot

kyphosis

an abnormal posterior curvature

VACTERL association

an acronym for a combination of abnormalities that represent vertebral anomalies, anorectal atresia, cardiac anomalies, tracheosophageal fistula, renal anomalies, and limb anomalies

hemivertebra

congenital malformation of the spine in which only half of a vertebral body develops

dysplasia

denotes the abnormal development of a structure

clinidactyly

deviation of a finger (absence of the middle fifth phalanx)

clinical findingsof limb-body wall complex

elevated MSAFP

sandal gap

exaggerated distance between the first toe and second toe

exencephaly

form acrainia in which the entire cerebrum is located outside of the skull

Syndactly

fusion of the digits ( webbed toes)

meningocele

herniation of the cranial or spinal meninges due to an open cranial or spinal defect

axial skeleton

includes the bones of cranium and spine

appendiclar skeleton

includes the bones of the upper extremities, lower extremities,. and pelvic girdle

meningomyelocele

mass that results from spina bifida that contains the spinal cord and the meninges

thatophoric dysplsia

most common lethal skeletal dysplasia characterized by a cloverleaf skull with frontal bossing and hydrocephalus

ahydramions

no amniotic fluid

encephalocele

protrusion of brain tissue through a defect in the skull

micromelia

shortening of an entire limb

splay

turned outward

clinical findings of caudal regression syndrome

uncontrolled maternal diabetes