THANATOPHORIC

DYSPLASIA
BY: STORMY LAXTON AND BRETLEY AGEE
Fall 2017
CASE HISTORY:

 25 Y/O AFRICAN AMERICAN FEMALE

 HX:G-3 P-1 (T-1 P-0 A-1 L-1), C/S X1 2012, LMP-
11/29/2016, SMOKER
 REASON FOR EXAM: Dwarfism, USG abnormalities, and
polyhydramnios on previous exam at FLINN Clinic
 LABS: Quad Screening
 SYMPTOMS: None at this time
PREVIOUS:  DOS: 4/14/2017
 REASON FOR EXAM: Fetal Growth and
AT FLINN CLINIC Development
 FINDINGS: short long bones, small fetal
thorax, normal AFI, and findings are
compatible with dwarfism
▶ DOS: 6/28/2017
▶ REASON FOR EXAM: Size Greater than
AT ST. FRANCIS Dates
PARK ▶ FINDINGS: AFI- 35.1, small for GA,
elongated skull, protrusion of the
stomach, and Dwarfism was strongly
suspected
 WHAT
WE
WALKED
INTO
SONOGRAPHIC FINDINGS: 32w2d

▶ Figure 1: The fetal skull

with a Kleeblattschadel
shape.

▶ Figure 2: This is an image of

the fetuses profile.

32w2d
SONOGRAPHIC FINDINGS:

▶ Figure 3: This is an image of

the fetus’ cardio-thoracic
circumference ratio.
 SONOGRAPHIC FINDINGS:
▶ Figure 5: Left Radius
32w2d
32w2d measuring 20w1d
32w2d

▶ Figure 4: Left Humerus ▶ Figure 6: Left Ulna

measuring 17w6d measuring 20w1d
SONOGRAPHIC FINDINGS:

32w2d ▶ Figure 8: Left Tibia 32w2d

LT FEM measuring 18w0d
32w2d

▶ Figure 7: Left Femur ▶ Figure 9: Left Fibula

measuring 17w5d measuring 14w6d
SONOGRAPHIC FINDINGS:

▶ Figure 10: Right hand in 3D ▶ Figure 11: Left hand in 3D

 SONOGRAPHIC FINDINGS:

▶ Figure 12: This is an image of the ▶ Figure 13: This is an image of the
patients AFI showing the largest patients AFI showing the end AFI
pocket of fluid measuring 17.76cm measurement measuring 62.84cm.
SONOGRAPHIC FINDINGS:

FIGURE 14: Umbilical artery Doppler.

 WHAT
WE ALL
THOUGHT
 PRENATAL DIAGNOSIS:
THANATOPHORIC DYSPLASIA

 Means “Death Bearing”

 DEFINITION:
A severe skeletal disorder characterized by
extremely short limbs and folds of extra
(redundant) skin on the arms and legs.
DIAGNOSIS:

 KEY FACTS:
 Most common form of lethal skeletal dysplasia
with a 2:1 male to female ratio
 Autosomal Dominant
 SYMPTOMS: Polyhydramnios
 SONOGRAPHIC FEATURES
 TWO TYPES:
 Type 1: Most common
 Type 2 is suspected of this case
FOLLOW-UP:

TREATMENT
SURGERY PROGNOSIS
PLANS
• Amnioreduction • Termination • Very poor due
• Aggressive processes to pulmonary
treatment if hypoplasia
desired
DELIVERY:

 Delivered at Regional One Health

 DELIVERY DATE: 8/15/2017 at 37w 0d Gestation
 DELIVERY METHOD: C/S
 Fetus was taken to the Newborn Center for comfort
care
 Baby died 2 ½ hours after delivery
 BIRTH WEIGHT: 5lbs 10oz
 Autopsy was refused
 DIFFERENTIAL DIAGNOSIS:
SHORT RIB-POLYDACTYLY SYNDROME TYPE 3

 Type 3 aka Verma- Naumoff  SYMPTOMS

 Rare,inherited, autosomal  SONOGRAPHIC FEATURES
recessive, lethal skeletal  FOLLOW UP- identical to TD
dysplasia
 HOW TO DIFFERENTIATE
4 types
CONCLUSION:

 25 y/o African American female

 Referred to MFRO due to an abnormal OB ultrasound at Flinn
Clinic where they suspected dwarfism
 Multiple skeletal anomalies seen
 Diagnosed with Thanatophoric Dysplasia
 Delivered at 37w0d; baby only lived 2 ½ hours after birth
 Definitive diagnosis could not be made
 Take Away & Teachable Moment
Figure 15: 3D image
of fetus face
 REFERENCES:
 https://rarediseases.info.nih.gov/diseases/4835/short-rib-polydactyly-syndrome-type-3
 https://www.google.com/search?q=Amnioreduction&rlz=1C5CHFA_enUS692US692&oq=Amnioreduction&aqs=chro
me..69i57j0l5.3735j0j7&sourceid=chrome&ie=UTF-8
 https://radiopaedia.org/articles/short-rib-polydactyly-syndrome
 https://www.google.com/search?rlz=1C5CHFA_enUS692US692&q=short+rib+polydactyly+syndrome+type+3&sa=X
&ved=0ahUKEwjRp_Ww7pjXAhWIhFQKHTobA0kQ1QIIbSgC&biw=872&bih=733
 https://radiopaedia.org/articles/fetal-cardio-thoracic-circumference-ratio-1
 https://www.google.com/search?q=thanatophoric+dysplasia&rlz=1C5CHFA_enUS692US692&oq=thanatophoric+d&
aqs=chrome.0.0j69i57j0l4.5795j0j4&sourceid=chrome&ie=UTF-8
 https://www.disabled-world.com/disability/types/thanatophoric-dysplasia.php
 https://www.usnews.com/news/best-states/tennessee/articles/2017-05-12/bill-banning-abortions-after-20-
weeks-becomes-tennessee-law
 https://www.kff.org/womens-health-policy/state-indicator/later-term-
abortions/?currentTimeframe=0&sortModel=%7B%22colId%22:%22Location%22,%22sort%22:%22asc%22%7D
 http://americanpregnancy.org/prenatal-testing/quad-screen/