Neonatal Nurse Practitioner Practice Exam

A neonate presents with microcephaly, short stature, and absent thumbs, later developing thrombocytopenia. What condition is suspected?

1. Blackfan-Diamond anemia

2. Fanconi anemia

3. Kasabach-Merritt syndrome

4. Thalassemia

The correct answer is: Fanconi anemia

The presence of microcephaly, short stature, and absent thumbs, along with the later development of thrombocytopenia, strongly suggests Fanconi anemia. This condition is characterized by congenital anomalies, including skeletal abnormalities such as absent thumbs and short stature, as well as hematological issues, which can manifest as thrombocytopenia. Fanconi anemia is a genetic disorder that affects the bone marrow and leads to a deficit in hematopoiesis, resulting in decreased production of blood cells, including platelets. The combination of physical anomalies and hematological findings such as thrombocytopenia aligns well with this condition. Other conditions listed in the choices also involve hematological abnormalities but do not typically present with the specific combination of symptoms described here. Blackfan-Diamond anemia primarily presents with macrocytic anemia and is not associated with abnormalities such as absent thumbs. Kasabach-Merritt syndrome involves a vascular tumor leading to consumptive coagulopathy, while thalassemia typically presents with chronic anemia and is not associated with the congenital malformations noted. Thus, the clinical features provided in the question uniquely point toward Fanconi anemia as the most likely diagnosis.