Aplastic anemia and Hoyeraal-Hreidarsson syndrome

A 2-year-old girl patient was admitted with intractable diarrhea, respiratory infections, and seizures. She was the first child of the first-degree parents. She was born at term with a birth weight of 2300 g. Physical examination revealed weight 6800 g, height 76 cm, and head circumference 41 cm, below the third percentile. Findings included sparse and dull hair, nail dystrophy, and proximally located thumbs (Figure). Aphthous lesions were observed on the oral mucosa. Neurologic examination disclosed poor head control. She could not sit without support and had hyper-reactive deep tendon reflexes.