Differential Diagnosis
- Single most likely diagnosis
- C) Fetal alcohol syndrome: The combination of short palpebral fissures, maxillary hypoplasia, micrognathia, thin upper lip, and growth restriction (5th percentile for length, weight, and head circumference) are classic features of fetal alcohol syndrome. The presence of a heart murmur and mild hypotonia also supports this diagnosis.
- Other Likely diagnoses
- B) Down syndrome: Although less likely, Down syndrome can present with growth restriction, heart murmurs, and hypotonia. However, the specific facial features described are more characteristic of fetal alcohol syndrome.
- Do Not Miss
- A) Congenital toxoplasmosis: This condition can cause growth restriction, heart murmurs, and neurologic abnormalities. Although less likely, it is a potentially treatable condition that should not be missed.
- F) Trisomy 13 syndrome: This condition can present with severe growth restriction, heart defects, and neurologic abnormalities. Although the described features do not perfectly match Trisomy 13, it is a life-threatening condition that should be considered.
- Rare diagnoses
- D) Fragile X syndrome: This condition typically presents with developmental delays, intellectual disability, and distinct physical features such as a long face and macroorchidism. The described features do not strongly suggest Fragile X syndrome.
- E) Seminiferous tubule dysgenesis (Klinefelter syndrome): This condition typically presents with tall stature, gynecomastia, and infertility in later life. The described features do not suggest Klinefelter syndrome.