Module 6: More Chormosomal Abnormaliteis Flashcards
How common is alert syndrome?
Rare syndrome
What is apert syndrome? 2.2
- Premature fusion of the skull bones
- Craniosynostosis
- Changing the normal head shape
- Acrocephalosyndactyly
What is acrocephalosyndactyly?
Group of congenital disorders consisting of cranial facial and hand and foot abnormalities
FGFR2 gene is responsible for what?
Bone development
Alerts is a syndrome that there is a alteration of what gene? What does this result in? 2
- FGFR2
- Abnormal fusion of the skull, hand, and foot bones
What are some sonographic appearances of aperts syndrome? 7
- Prominent bulging forehead
- Increased Cephalic index
- Maxillary underdevelopment
- Hypertelorism - wide set eyes
- Agenesis of corpus callosum- ACC
- Ventriculomegaly
- SYndactyly or digital fusion
What is CHARGE syndrome?
A collection of rare malformations
80-90% of CHARGE syndrome individuals have what?
Coloboma
What is Coloboma? 2
- A hole in the structure of the eye
- Affects eye sight in one or both eyes
What are some physical symptoms of CHARGE symptoms? 2
- Small eyes
- Cranial nerve damage
With Charge syndrome, what are some things that cranial nerve damage results in? 8
- Swallowing
- Facial paralysis
- Smell
- Hearing
- Heart defects
- Cleft lip/ palate
- Hypogonadism
- TE fistula
What does CHARGE stand for?
- Coloboma - eye
- Heart defects
- Atresia choanae- nasal passage
- Growth restriction
- Genital abnormalities
- Ear abnormalities
What are some sonographic appearances of CHARGE? 9
- Cardiac abnormalities
- Cleft lip
- Cleft palate
- Renal anomalies - horseshoe
- Omphalocele - AFP increase
- Hemivertebrae
- Hypertelorism
- TE fistula
- Polydactyly
What is amniotic band syndrome caused by?
Rupture of the amnion
Amniotic band syndrome results in what?
Fetal parts being entangled by amniotic bands or sheets, causing disruption or amputation
What is the outcomes for amniotic band syndrome?
Depend on the degree of entanglement
What is the Limb-body wall complex or LBWC?
Combination of limb and ventral wall defects
What are the two types of LVWC?
- One with craniofacial defects
- One without craniofacial defects
What are examples of craniofacial defects? 3
- Encephalocele or exencephaly
- Facial cleft
- Adhesion of the amnion between the placenta and cranial defect
What are some additional defects with LBWC? 8
- Short umbilical cords
- Intact amnion/ extraembryonic coelom persistence
- Urogenital malformations
- SPinal dysgraphia or scoliosis
- Anal atresia
- Lumbo- sacral meningococcal
- Limb defects
- Increase AFP in the 2nd trimester
LBWC severity depends on what/?
The time of pregnancy when the amnion rupture sand what attaches to the embryo
What happens at 5weeks for LBWC? 4
- Anencephaly
- Asymmetric encephaloceles
- Facial clefts
- Placenta attaching to head/ abdomen
What happens at 7-8 weeks with LBWC? 2
- Limb reduction or abnormalities
- Thorocoabdominal malforamtions (scoliosis)
What happens with LBWC at the end of the 1st trimester or later?
Malformation and amputation of limbs
What is the sonographic appearance of LBWS? 5
- Fetus appears stuck to the placenta
- Ventral wall defects
- Facial clefts
- Severe kyphoscoliosis
- Limb abnormalities
What are some limb abnormalities of LBWS? 2
- Upper extremity phocomelia
- Abnormal thumbs (absent, bifold thumb, triphalangeal thumb)
What is beckwidth- Weismann syndrome? 8
Overgrowth disorder with 5 findings such as
1. Macrosomia
2. Macroglossia
3. Anterior wall defects
4. Hypoglycaemia at brith
5. Hemihyperplasia
6. Renal Abnormalities
7. Overgrowth of external genitalia
8. Visceromegaly
BWS causes an increase risk for what? 2
Paediatric neoplasia such as
1. Wilma tumor
2. Hepatoblastoma
What is the sonographic appearance of BWS? 7
- Macroglossia
- Macrosomia
- Omphalocele
- Enlarged kidneys
- Cardiomegaly
- Placenta Choriocarcinoma
- Polyhydraminos
Why are children with BWS constantly scanned?
Because of the increased incidence of these tumors
What is Meckel Gruber syndrome?
Gene that produces the proteins required to make primary cilium of the ciliated epithelial cells
What are some things we see with Meckel- Gruber syndrome? 4
- Renal dysplasia
- Limb anomalies
- Encephalocele
- Sometimes DWS
What is the sonographic appearance of Meckel- Gruber syndrome? 4
- Encephalocele
- Large echogenic kidneys
- MRI
- Polydactyly
What does this image represent?
CHARGE syndrome
What does this image represent?
Trachea-esophageal fistula
What does this image represent?
Amniotic band syndrome
What does this image represent?
Limb-body wall complex
What does this image represent?
LBWS
