Craniosynostosis and Its Syndromic Associations

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Questions and Answers

What three features must be identified for a diagnosis of VACTERL association?

Vertebral defects, renal anomalies, limb dysplasia (correct)

Tracheoesophageal fistula, bilateral renal agenesis, syndactyly

Cardiac anomalies, single umbilical artery, oligohydramnios

Anal atresia, talipes, clubfoot

Which condition is characterized by the fusion of lower extremities and is often associated with oligohydramnios?

Clubfoot

Amniotic band sequence

Sirenomelia (correct)

Apert syndrome

What is a common sonographic finding associated with clubfoot?

Bilateral renal agenesis

Ventriculomegaly

Rocker-bottom foot (correct)

Single umbilical artery

What does a drop in the MCA S/D ratio indicate during a normal pregnancy?

Fetal anemia Signup and view all the answers

What syndrome is characterized by fusion of digits and typically detected in the third trimester?

Apert syndrome Signup and view all the answers

Which of the following is NOT a sonographic finding of sirenomelia?

Cardiac anomalies Signup and view all the answers

Which form of skeletal dysplasia is linked with presence of a single umbilical artery and can occur with monozygotic twinning?

Amniotic band sequence Signup and view all the answers

What is the primary abnormality associated with craniosynostosis?

Fusion of cranial sutures Signup and view all the answers

Which condition is characterized by abnormal shortening of the proximal portion of the limbs?

Rhizomelia Signup and view all the answers

What is a common feature found in lethal skeletal dysplasias?

Severe micromelia Signup and view all the answers

In fetuses, which measurement indicates that the long bones are growing adequately for their gestational age?

Above 2 standard deviations Signup and view all the answers

Which condition is associated with soft tissue fusion of digits?

Syndactyly Signup and view all the answers

Which fetal condition is characterized by an inverted, plantar-flexed foot seen in the same plane as the tibia and fibula?

Talipes equinovarus Signup and view all the answers

Which skeletal dysplasia is NOT typically considered lethal?

Achondroplasia Signup and view all the answers

What appearance do bones have in skeletal dysplasia?

Thin and deformed Signup and view all the answers

Which factor is NOT typically evaluated when assessing limb abnormalities in fetal imaging?

Fetal heart rate Signup and view all the answers

Which of the following is a severe form of skeletal dysplasia that can lead to pulmonary hypoplasia?

Achondrogenesis Signup and view all the answers

What is the normal Doppler waveform appearance in the umbilical artery primarily influenced by?

Fetal and maternal factors Signup and view all the answers

What is considered a strong indicator of skeletal dysplasia based on limb lengths?

Limb lengths falling more than two standard deviations below the mean Signup and view all the answers

Which abnormality is NOT commonly associated with Thanatophoric Dwarfism?

Normal mineralization of bones Signup and view all the answers

What facial anomaly is associated with Achondroplasia?

Frontal bossing Signup and view all the answers

What is a common sonographic finding for Congenital Hypophosphatasia?

Short bones and curved bones Signup and view all the answers

Which syndrome is characterized by the presence of hydrocephalus and micromelia?

Camptomelic Dysplasia Signup and view all the answers

Which of the following is NOT a characteristic of Osteogenesis Imperfecta?

Normal bone fragility Signup and view all the answers

Which type of skeletal dysplasia is most associated with lethal outcomes?

Achondrogenesis Signup and view all the answers

What type of anomalies are observed in Short Rib-Polydactyly Syndrome?

Anomalies of the cardiovascular system Signup and view all the answers

What characteristic is commonly examined in the thoracic circumference for skeletal dysplasias?

Narrow or long/thin chest Signup and view all the answers

Which condition is characterized by severe polyhydramnios during pregnancy?

Camptomelic Dysplasia Signup and view all the answers

Which of the following factors is NOT considered a high-risk factor for requiring extra exams during pregnancy?

Low maternal age Signup and view all the answers

What is the maximum score for a Biophysical Profile (BPP) assessment if a non-stress test is included?

10 Signup and view all the answers

Which BPP parameter requires the fetus to demonstrate 30-60 seconds of fetal breathing movements?

Fetal breathing movements Signup and view all the answers

What is one of the functions of the placenta during pregnancy?

Fetal metabolism Signup and view all the answers

When is it appropriate to diagnose a low lying placenta?

After 32 weeks Signup and view all the answers

What type of test is conducted to assess the reactivity of fetal heart rate during non-stress testing?

Doppler ultrasound Signup and view all the answers

What result indicates a normal or reactive non-stress test?

Acceleration of fetal heart rate by 15 BPM or more twice Signup and view all the answers

How far from the internal cervical os is considered low lying for the placenta?

1-2 cm Signup and view all the answers

Which condition is characterized by a fetus that is small all over without head sparing?

Symmetric IUGR Signup and view all the answers

What is the most accurate measurement technique to date gestation between 6-11 weeks?

Crown-Rump Length (CRL) Signup and view all the answers

What is a high-risk sign on the Doppler assessment in terms of the S/D ratio after 30 weeks?

S/D ratio of 3 or above Signup and view all the answers

Which of the following is NOT a risk factor for symmetric IUGR?

Elevated blood pressure Signup and view all the answers

Which parameter is used to measure the growth of the fetus throughout the second trimester?

Biparietal Diameter (BPD) Signup and view all the answers

Which of the following is NOT a risk factor for Large for Gestational Age (LGA)?

Use of tobacco during pregnancy Signup and view all the answers

Which component is NOT typically included in the Biophysical Profile (BPP) assessment?

Fetal weight Signup and view all the answers

What should be the normal Cephalic Index (CI) ratio range?

70-85% Signup and view all the answers

What is the implication of obtaining a score of 0 or 2 on the fetal monitoring scale?

Fetus is at high risk for mortality and morbidity Signup and view all the answers

What does a MSD measurement of 4-5 weeks gestation indicate?

No embryo visible Signup and view all the answers

Which factor does NOT contribute to the severity of symmetric IUGR?

Excessive maternal weight gain Signup and view all the answers

What is the correct method to convert grams to pounds?

Move the decimal 3 places left and multiply by 2.2 Signup and view all the answers

Which measurement technique provides an estimate of fetal weight throughout pregnancy?

Abdominal Circumference (AC) Signup and view all the answers

What abnormal characteristic is associated with high resistance in Doppler waveforms?

Absent diastolic flow after 18-20 weeks Signup and view all the answers

Which complication is associated with fetal macrosomia?

Shoulder dystocia Signup and view all the answers

What is the resistance index (RI) calculated as in Doppler assessment?

(S-D)/S Signup and view all the answers

Study Notes

Craniosynostosis and Associated Conditions

Craniosynostosis can lead to multiple syndromic associations, including syndactyly, characterized by the fusion of digits.
Apert syndrome is detectable in the third trimester, presenting with bilateral syndactyly and additional abnormalities affecting cardiac, genitourinary (GU), and cerebral systems, particularly involving the corpus callosum.

Skeletal Anomalies

Clubfoot (talipes) has a higher prevalence in males.
Rocker-bottom foot is marked by a prominent heel and convex sole, often associated with trisomy 18 and other chromosomal anomalies.

Amniotic Band Sequence

Also referred to as synechiae, this condition results from bands attached from one uterine wall to another, leading to various malformations.

Caudal Regression Syndrome/Sirenomelia

Presents a spectrum of malformations at the caudal end of the neural tube, with sirenomelia specifically showing fused lower extremities.
Associated factors include monozygotic twinning, presence of a single umbilical artery, and maternal cocaine use.

VACTERL Association

VACTERL is a cluster of congenital anomalies that must include at least three features: vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb dysplasia.

Doppler Assessment in Pregnancy

Normal Middle Cerebral Artery (MCA) S/D ratio decreases with advancing gestational age.
Abnormal ratios can indicate fetal anemia, intrauterine growth restriction (IUGR), hydrops, or isoimmunization.
IUGR and hypoxic stress lead to a decreased MCA S/D ratio indicating brain-sparing effects.

Skeletal System Evaluation

Normal sonographic appearance includes measurement techniques for fetal long bones; abnormal size or appearance raises suspicion for skeletal dysplasia.
Micromelia refers to abnormally short limbs, mesomelia affects the middle portions (radius, ulna), rhizomelia involves shortening at proximal ends (femur, humerus), and acromelia affects distal ends (hands, feet).

Skeletal Dysplasia Management

Family and paternal histories, along with serial growth images, are vital for assessment.

Lethal vs. Non-Lethal Skeletal Dysplasia

Lethal forms often have severe prenatal appearances with accompanying pulmonary hypoplasia conditions.
Common non-lethal forms include achondroplasia, which can manifest with rhizomelia and macrocephaly.

Common Skeletal Dysplasias

Achondrogenesis, thanatophoric dysplasia, and osteogenesis imperfecta are notable lethal skeletal dysplasias.
Non-lethal forms might present milder abnormalities, like in achondroplasia with frontal bossing and narrow thorax.

Anomalies of Specific Dysplasias

Achondrogenesis:* Severe micromelia, hypomineralization, and absent ossification of structures.
Thanatophoric Dwarfism:* Bowed long bones, macrocephaly, narrow thorax, severe hydrocephalus.
Asphyxiating Thoracic Dysplasia:* Characterized by narrow thorax, rhizomelia, and lethal pulmonary hypoplasia.
Ellis-Van Creveld Syndrome:* Involves polydactyly, short limbs, and heart defects, prevalent in the Amish community.
Osteogenesis Imperfecta:* High variability, with types I and IV being non-lethal and type II noted for lethal outcomes.
Camptomelic Dysplasia:* Presents with bowed long bones, cleft palate, and possible hydrocephalus.

Congenital Hypophosphatasia and Dysostosis

Characterized by hypomineralization, curved long bones, and diagnosis confirmed through specific biochemical tests.
Dysostosis involves abnormal ossification patterns, leading to craniofacial anomalies.

Maternal Portion of the Placenta

Consists of the basal plate (decidua basalis) and the fetal surface (chorionic plate).
The umbilical cord should insert centrally in the placenta.

Functions of the Placenta

Responsible for fetal metabolism, nutrition, waste excretion, protection, and storage of nutrients.
Produces key hormones including human chorionic gonadotropin (HCG), estrogen, and progesterone.

Placenta Localization

Placement relative to the internal cervical os is important; low lying is defined as 1-2 cm from the os.
Diagnosis of low lying placenta should not be made until after 32 weeks due to potential migration.

Biophysical Profile (BPP)

High-risk factors necessitate additional examinations to monitor fetal health.
BPP assesses fetal well-being or distress, focusing on signs of asphyxia including hypoxia and acidosis.
Criteria for BPP:
- Fetal breathing movements must last 30-60 seconds.
- Gross body movements need to be noted (3 movements).
- Fetal tone requires at least 1 episode of flexion/extension.
- Amniotic fluid volume should have a pocket measuring at least 2 cm vertically.
Scoring system: Each parameter can score 2 points, with a total possible score of 10 including non-stress test contributions.

Non-Stress Test (NST)

Considered normal when fetal heart rate increases by 15 BPM or more at least twice over 20 minutes.
Requires monitoring via Doppler for heart rate reactivity during contractions.

Fetal Growth Assessment

Utilizes sonographic measurements to identify Intrauterine Growth Restriction (IUGR), defined as fetuses at or below the 10th percentile for gestational age.
Most accurate assessment dates are determined early via menstrual dating and ultrasonographic methods.

Key Measurements

Mean Sac Diameter (MSD) offers accuracy of ± 1 week, typically used when no embryo visible (4-5 weeks).
Crown-Rump Length (CRL) is most accurate at 6-11 weeks with ± 5-7 days accuracy.
Biparietal Diameter (BPD) measurements taken 11-40 weeks provide varying accuracies based on gestation timing.

IUGR Types

Symmetric IUGR: Small size across the board, typically due to severe first trimester insults (e.g., congenital anomalies, infections).
Asymmetric IUGR: Usually spares head size, indicative of later gestational insults, such as placental insufficiency.

Doppler Ultrasound Application

Qualitative Doppler assessment evaluates flow resistance using ratios such as Systolic/Diastolic (S/D ratio).
Increased vascular resistance indicates underlying issues in IUGR, with late signs including absent or reversed end-diastolic flow.

Macrosomia

Birth weight greater than 4000 g or above the 90th percentile for a given gestational age.
Associated risks include shoulder dystocia, fractures, and brachial plexus injuries.
Risk factors include gestational diabetes, obesity, advanced maternal age, and excessive weight gain.

Conversion Note

For converting grams to pounds, move the decimal three places left and multiply by 2.2 (e.g., 2000g = 4.4 lbs).

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Description

This quiz delves into craniosynostosis and its related syndromic associations, such as Apert syndrome and its detectable features during the third trimester. Additionally, explore skeletal anomalies like clubfoot and rocker-bottom foot, enhancing your understanding of these congenital conditions.