(BMJ)—A 23-yo man w/ short stature, congenital malformations of L thumb and both ears and a single kidney presented w/ back pain, SOB, fatigue, and easy bruising. Family hx: Brother w/ worse malformations died in early childhood. Labs: pancytopenia. What is the dx?
Shwachman-Diamond syndrome
|
Radioulnar synostosis w/ amegakaryocytic thrombocytopenia
|
Thrombocytopenia-absent radius syndrome
|
Dyskeratosis congenita
|
Fanconi anemia
|