Figure 1

Clinical features of a girl with a point mutation in Rabenosyn-5. A: Facial features showing midfacial bone hypoplasia, deep set eyes with a hooded appearance, a fullness in the nasal bridge, a short nose and a large mouth with small teeth and tongue protrusion. B: PA view of right hand showing marked under mineralization, coned epiphyses, under tubulated long bones, and relatively short digits particularly involving the middle phalanges of digit 2 and digit 5. Delayed skeletal maturation at approximately 2 years 6 months for a chronological age of 6 years 2 months and a single standard deviation of 10 months. C-F: Bone marrow aspirates showing megaloblastoid erythropoiesis (C and D), occasional intercytoplasmic bridging (C), mild increase in reticulin fibrosis throughout most of the bone marrow (E). Foamy macrophages most notably in the bone marrow biopsy specimen (F).