Femoral Hypoplasia with Unusual Facies Syndrome

Early Recognition of a Rare Fetal Skeletal Syndrome

A Fetal Well-Being Ultrasound was performed at 15–16 weeks of gestation as part of prenatal evaluation.

Detailed fetal assessment revealed the following findings:

• Bilateral femoral hypoplasia
• Micrognathia
• Clubfoot (CTEV)

The combination of these ultrasound findings was suggestive of Femoral Hypoplasia with Unusual Facies Syndrome, a rare congenital condition characterized by distinctive facial features and abnormalities involving the femur development.

This case highlights the importance of a meticulous early second-trimester fetal ultrasound examination. Identifying characteristic patterns of anomalies can help in recognizing rare syndromes, enabling appropriate counseling, further evaluation, and pregnancy management planning.

Diagnosed by: Dr. Garima Bansal Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Cholecystoenteric fistula with Gallstone Ileus

An Ultrasound Abdomen was performed for a 70-year-old female presenting with recurrent episodes of vomiting.

The examination revealed dilated fluid-filled small bowel loops with a large calculus impacted within the small bowel, suggesting intestinal obstruction. Additional findings included a small contracted gallbladder containing internal echoes and air foci, along with pneumobilia.

The combination of these findings was suggestive of a cholecystoenteric fistula with gallstone ileus—a rare complication where a gallstone enters the bowel through an abnormal communication between the gallbladder and intestine, leading to obstruction.

This case highlights the diagnostic value of ultrasound in identifying indirect signs of complex abdominal pathology. Recognizing the combination of bowel obstruction, ectopic gallstone, and pneumobilia can help establish an uncommon but important diagnosis and facilitate timely surgical management.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Impending Testicular Infarction

Recognizing a Critical Change in Testicular Blood Flow

An Ultrasound Scrotum was performed for evaluation of a patient with testicular symptoms.

The examination revealed a bulky testis with abnormal vascular flow patterns, demonstrating reversed diastolic flow signals on Doppler assessment. These findings indicated compromised testicular perfusion and were suggestive of impending testicular infarction as a sequel to chronic orchitis.

Early recognition of altered vascular parameters on Doppler ultrasound is crucial, as changes in blood flow can provide important information about testicular viability and guide timely clinical management.

This case highlights the importance of a detailed scrotal ultrasound with Doppler evaluation, where subtle changes in vascularity can help identify patients at risk of serious complications.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Trisomy 13 (Patau syndrome)

A Detailed Fetal Scan Providing Clarity in a Complex Case

A Fetal Well-Being Ultrasound was performed for a patient referred at 19–20 weeks of gestation for evaluation of a suspected fetal anomaly that was not clearly defined on a previous examination elsewhere.

A comprehensive fetal assessment revealed multiple structural abnormalities, including:

• Holoprosencephaly
• Proboscis
• Omphalocele
• Microphthalmia with hypotelorism
• Post-axial polydactyly
• Single umbilical artery
• Bilateral intracardiac echogenic foci

The constellation of these findings was highly suggestive of Trisomy 13 (Patau syndrome). The findings were communicated for appropriate counseling, further evaluation, and multidisciplinary management.

This case highlights the importance of a detailed and systematic fetal ultrasound examination. Recognizing a combination of seemingly unrelated anomalies can help establish a syndromic diagnosis, allowing timely counseling and informed decision-making for the family.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Gossypiboma

When a Suspected Hematoma Turned Out to Be Something Else

An Ultrasound Whole Abdomen was performed for a patient referred with a suspected uterine hematoma based on a previous scan done elsewhere.

On careful evaluation, the ultrasound revealed a heterogeneous echogenic lesion distending the endocervical canal, producing dirty posterior acoustic shadowing, along with multiple hyperechoic specks within the endometrial cavity. These characteristic imaging features raised suspicion for a gossypiboma (retained surgical sponge) rather than a hematoma.

The findings were promptly communicated to the treating gynecologist. On follow-up, the diagnosis was confirmed, and the retained surgical sponge was successfully removed.

This case highlights the importance of recognizing the characteristic ultrasound appearance of a gossypiboma. A careful and systematic evaluation can differentiate it from other pelvic pathologies, leading to timely diagnosis and appropriate surgical management.

Diagnosed by: Dr. Garima Bansal Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Tricuspid atresia with a ventricular septal defect

Even in Late Pregnancy, Every Scan Can Make a Difference

A Fetal Well-Being Ultrasound was performed for a patient who presented to our centre for the first time at 35 weeks of gestation.

The fetal cardiac evaluation revealed tricuspid atresia with a ventricular septal defect (VSD). Ultrasound findings included a small right ventricle, dilated left ventricle, small pulmonary artery, inlet VSD, and absence of flow across the tricuspid valve—features consistent with this complex congenital heart disease.

Although the diagnosis was made late in pregnancy, identifying the anomaly before delivery was crucial. It enabled timely counseling, appropriate referral, and delivery planning at a centre equipped to provide specialized neonatal and pediatric cardiac care.

This case highlights that a detailed fetal assessment remains valuable at every stage of pregnancy. Even when a patient presents late, careful ultrasound evaluation can significantly influence perinatal management and improve preparedness for postnatal care.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India

Hypoplastic Right Heart Syndrome (HRHS)

Early Detection Matters: Identifying a Critical Fetal Heart Defect at 12 Weeks

A first-trimester NT scan was performed at 12 weeks of gestation.

During the examination, no flow was seen across the tricuspid valve, and the right ventricle appeared echogenic and underdeveloped, raising strong suspicion for Hypoplastic Right Heart Syndrome (HRHS). The fetus also demonstrated an absent nasal bone and reversed "a" wave in the ductus venosus, highlighting the need for comprehensive fetal evaluation and genetic counseling.

The findings were communicated promptly to the referring obstetrician, and the patient was advised regarding further fetal assessment. Follow-up at 16 weeks in Chandigarh confirmed the ultrasound findings.

This case emphasizes the value of a meticulous first-trimester scan. Careful assessment of the fetal heart, in addition to routine NT measurements, can enable the early diagnosis of some major congenital cardiac anomalies, allowing families and clinicians more time for informed decision-making and appropriate prenatal care.

Diagnosed by: Dr. Ayush Goel

SHIVI Imaging Centre

Digital X-Ray • Ultrasound • Colour Doppler • Advanced DEXA Scan • OPG • Mammography Centre

📍 #660, Sector 7, Near ITI College for Boys, Opposite Doctor’s Colony, Ambala City, Haryana, India