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