Case Report for Case Presentations

Student: STORMY LAXTON Clinical Site: MATERNAL FETAL Trimester/Year: FALL 2017
REGIONAL ONE
Type of Exam: OBGYN 2ND/3RD TRIMESTER Pathology: SHORT- RIB POLYDACTYLY SYNDROME

Complete the following required elements regarding the clinical case being presented during case
presentations. To receive full credit for the Case Report, the information provided must be accurate,
complete, and applicable to the pathology case. Do not change or delete any of the information in the
case report form. Students should add their case’s information to the form.

Patient Information: Age: 25 YO Race: AFICAN Sex: FEMALE DOS: 07/13/2017

AMERICAN

Case History: In bullet point format, describe the reason for the exam, applicable previous imaging with results,
pertinent labs (if no labs available, identify what should be reviewed and why), medical history, symptoms, etc.
History reported must demonstrate that the student considered all pertinent patient interview questions.
 REASON FOR EXAM: Dwarfism, USG abnormalities, and polyhydramnios on previous exam at FLINN
Clinic
 PREVIOUS IMAGING:
o AT FLINN CLINIC:
 DOS: 4/14/2017
 REASON FOR EXAM: Fetal Growth and Development
 FINDINGS: short long bones, small fetal thorax, normal AFI, and findings are compatible
with dwarfism
o AT ST. FRANCIS PARK:
 DOS: 6/28/2017
 REASON FOR EXAM: Size Greater than Dates
 FINDINGS: AFI- 35.1, FETAL SIZE- small for GA, DISTAL ABNORMALITIES- elongated
skull, protrusion of the stomach, and Dwarfism is strongly suspected
 LABS: Positive Quad Screen for Downs syndrome – this put her risk at 1 and 267 for having a child with
Downs Syndrome. (Most cases after having a Positive Quad Screening the patient would undergo other
testing such as an amniocentesis but our patient refused to test her fluid even though she had an
Amnioreduction due to a lack financial help)
 MEDICAL HISTORY: G-3, P-1 (T-1, P-0, A-1, L-1) normal birth with living child, Smoker, C/S x1 in 2012
 SYMPTOMS: N/A Mother was not experiencing any symptoms at this time.
Case Sonographic Findings: In appropriate terms, describe completely the sonographic features of the
pathology and when applicable, the surrounding structures visualized. Description should demonstrate the
student’s ability to effectively communicate exam findings. Do not include research information in this section.
Refer to your Foundation textbook Chapter 1 & 4.
 SONOGRAPHIC FINDINGS: Polyhydramnios was noted with the AFI being 62. A cloverleaf skull(bending
of the temporal bones) was seen with the HC and BPD measuring correct with her dates. Short long
bones/ micromelic dwarfism, and a narrow chest (bell shaped/champagne cork shaped). Clinodactyly is
seen in both the right and left hands. Due to the short bones brachydactyly can also be seen in the
fingers and toes. Frontal bossing was seen in the profile image. The AC appeared to look and measure
correct with her dates. An increase in cardiac/thoracic circumference is usually evident due to
pulmonary hypoplasia and this was evident in my patient with the heart occupying more that 50% of
the thoracic cavity. All long bones present to measure short and some appeared to be bowed in shape.
The baby was noted to hay cryptorchidism. Elevated umbilical artery Doppler.

Research of Pathology: In bullet point format, identify and define the pathology, prevalence and/or
associations, common clinical symptoms, common sonographic features of the pathology, and common follow
up.
 PATHOLOGY: Thanatophoric Dysplasia (means death bearing)
 DEFINITION: TD is the most common form of lethal skeletal dysplasia. A severe skeletal disorder
characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs.
 ASSOCIATIONS/PREVALENCE: Occurs in 1 and 20,000 births. TD occurs twice as often in males as in
females. This is an autosomal dominant dysplasia.
 COMMON CLINICAL SYMPTOMS: There are no real clinically diagnosable symptoms except for
polyhydramnios. Polyhydramnios is an increased amount of amniotic fluid within the amniotic sac. This
can leave the mother experiencing a feeling of fullness and tightness.
 COMMON SONOGRAPHIC FEATURES: In general: curved or bowed long bones, hypomineralization,
narrow thorax, macrocephaly, frontal bossing, rhizomelia, platyspondyly, horseshoe kidney,
hydronephrosis, hypertelorism, polyhydramnios, normal trunk length, clover leaf skull,
ventriculomegally, short ribs, thickened skin
o Two types: Type I most common
 Type I: Extreme rhizomelia, bowed long bones with “telephone receiver” appearance,
normal trunk length, platyspondyly, frontal bossing, no cloverleaf skull
 Type II: Straighter long bones, taller vertebral bodies, and cloverleaf skull (results from
premature closure of the coronal and lambdoid sutures, defective development of the
cranial base with secondary synostosis, or a primary developmental disorder of the
brain with secondary deformation of the skull.
 Others: Narrow thorax with protruding abdomen giving it a “champagne cork” appearance,
horseshoe kidney, hydronephrosis, cardiac defects such as ASDs, hypertelorism,
imperforate anus, polyhydramnios, ventriculomegally, macrocranium
 COMMON FOLLOW UP: The prognosis is poor with most fetuses being stillborn or dying within hours
after birth from respiratory failure from pulmonary hypoplasia. Prenatal diagnosis is by CVS or
amniocentesis is available. Offer of pregnancy termination, evaluation of hydrocephalus (if massive
hydrocephalus is present cephalocentesis or c section should be considered to avoid maternal trauma).
Typically there is no other imaging modalities used to detect this pathology while in utero however
some X-rays can be performed afterbirth to help in diagnosis.
o TREATMENT:
 Amnioreduction- procedure where an amniocentesis is performed for intentional
reduction of the amniotic fluid (this is done for testing purposes and to make mother
feel more comfortable) this has a risk of preterm labor. Our patient had 2
amnioreductions done to relieve pain and make mother feel more comfortable. Testing
of the amniotic fluid with a skeletal dysplasia panel was offered to the patient and
 while she wanted this done it is not a procedure insurance covers so she refused due
to her financial status.
 if aggressive treatment is denied due to the lethality of the disease, then palliative care
treatment will be put into place to keep the infant comfortable, warm, and nourished.
Aggressive treatment was not performed on our patient’s baby.
o SURGERY:
 Termination Processes- depending on what state the patient lives in. In TN no abortion
can be performed after 20 weeks’ gestation.
 As of October 1st, 2017 8 out of 50 states have no restrictions on abortions these states
are: Alaska, Colorado, DC, New Hampshire, New Jersey, New Mexico, Oregan and
Vermont.
 Our patient did not go this route.
o PROGNOSIS:
 Poor, most fetuses are stillborn or dying within hours after birth from respiratory
failure from pulmonary hypoplasia. However, survival for several months has been
reported.
 Sadly, our baby died 2 ½ hours after birth.

 DELIVERY NOTES: Our patient gave birth on 8/15/2017 at Regional One Health
She gave birth at 37w 0d her delivery was premature due to the second Amnioreduction.
She gave birth Via a C/S and the fetus was taken to the Newborn center for comfort care.
The baby was born weighing 5lbs 10oz and sadly passed 2 ½ hours after delivery
Autopsies are typically done to determine a definitive diagnosis but our patient refused due to her lack
of financial help.

Differential diagnosis of Pathology: In bullet point format, identify and define the differential diagnosis of
pathology, prevalence and/or associations, common clinical symptoms, common sonographic features of the
pathology, and common follow up.
 DIFFERENTIAL DIAGNOSIS: Short Rib-Polydactyly Syndrome Type 3 Verma- Naumoff
 DEFINITION: Rare inherited, autosomal recessive, lethal skeletal dysplasia
 PREVALENCE: Prevalence is unknown and the syndrome is rare. Autosomal recessive mode of
transmission. There are 4 types of SRPS.
 ASSOCIATIONS: Associated multiple malformations include cardiovascular defects, renal
agenesis/hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar
hypoplasia.
 COMMON CLINICAL SYMPTOMS: The mother of the fetus will be experiencing the filling of fullness due
to polyhydramnios.
 COMMON SONOGRAPHIC FEATURES: short limbs/ micromelic dwarfism, constricted thorax, short and
horizontal ribs, polydactyly, and multiple anomalies of other organs. Normal head circumference and
normal bone mineralization. The most striking ultrasound finding is a very narrow chest with short
limbs. The limbs, however, are not as short as other lethal conditions such as TD, achondrogenesis, and
OI type 2. Polyhydramnios is also another finding associated with this pathology. Polydactyly can be
noted in fetuses with SRPS.
 COMMON FOLLOW UP: The prognosis is poor with most fetuses being stillborn or dying within hours
after birth from respiratory failure from pulmonary hypoplasia. Prenatal diagnosis is by CVS or
amniocentesis is available.
o TREATMENT:
 Amnioreduction is a procedure where an amniocentesis is performed for intentional
reduction of amniotic fluid volume. This can be done to make mom feel more
comfortable.
o SURGERY:
  Termination Processes- depending on what state the patient lives in. In TN no abortion
can be performed after 20 weeks’ gestation.
 As of October 1st, 2017 8 out of 50 states have no restrictions on abortions these states
are: Alaska, Colorado, DC, New Hampshire, New Jersey, New Mexico, Oregan and
Vermont.
o PROGNOSIS: Many affected infants die immediately but some survive longer than others. All
three types of SRPS are lethal as effected fetuses die within a few hours after birth from
pulmonary hypoplasia.
 HOW TO DIFFERINTIATE:
o With these patients there will be polydactyly which our patient did not have, also the ribs will
measure a less than 50% in the thorax
o The true way to know if you patient has SRPS would be testing after birth and testing of the
amniotic fluid to truly be able to differentiate the two pathologies