Cystic hygroma may be associated with:March 2005
## **Core Concept**
Cystic hygroma, also known as cystic lymphangioma, is a congenital malformation of the lymphatic system. It typically presents as a fluid-filled sac or cyst, most commonly in the neck, but can also occur in other parts of the body. This condition arises due to abnormal development of lymphatic vessels during embryonic development.
## **Why the Correct Answer is Right**
The correct answer, , Turner syndrome, is associated with cystic hygroma because of the lymphatic system abnormalities that can occur in this genetic disorder. Turner syndrome, characterized by a 45,X karyotype, affects females and is known for various physical and developmental anomalies. One of the prenatal ultrasound findings can be the presence of cystic hygroma, which is thought to be related to lymphatic dysplasia and increased risk of cardiac anomalies.
## **Why Each Wrong Option is Incorrect**
* **Option A:** While certain infections and conditions can cause lymphatic abnormalities, there isn't a direct, well-established association with cystic hygroma as there is with Turner syndrome.
* **Option B:** No well-known direct association exists between cystic hygroma and Klinefelter syndrome (47,XXY), which primarily affects males and presents with different clinical features.
* **Option C:** No established direct link exists between cystic hygroma and Down syndrome (Trisomy 21), although both are genetic conditions; they have different primary manifestations.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that the presence of cystic hygroma on prenatal ultrasound warrants further investigation for potential chromosomal abnormalities, such as Turner syndrome, and for structural heart anomalies. Early detection can aid in genetic counseling and management planning.
## **Correct Answer: D. Turner syndrome**