LAUSR

We read with interest the letter of Benedicenti and Superti-Furga “Themultiple faces of artwork diagnoses” [1], which challenges our previous diagnosis of neurofibromatosis type-1 and hypo-pituitary dwarfism [2] in the maid depicted by Andrea Mantegna's fresco known as the Bridal Room. The authors propose the diagnosis of achondroplasia, instead [1] (Fig. 1). Dwarfism, a medical condition frequently reported in works of art, has fascinated generations of artists [3]. Most of the depicted dwarfs were affected by achondroplasia whose main features include shortening of the limbs, a large head with prominent frontal bossing, midface retrusion, flattened nasal bridge, bulking chin and high malar bones. Over the centuries, these characteristics of achondroplasia have been reported correctly both by sculptors, painters and other artists [3]. We note that a diagnosis of achondroplasia in the Bridal Room's maid has been proposed by numerous scholars since 1986 [3–7]. However, Battin [6] has previously emphasized that themaid shows a peculiar kind of dwarfism, which cannot be classified as achondroplasia because she lacks the characteristic features of achondroplasia patients such as a larger than average head with prominent frontal bossing, she has nomidface retrusion, no flattened nasal bridge, no bulking chin nor high malar bones. Finally, the maid shows hypertelorism, which is uncommon in achondroplasia patients (Fig. 1C). Given hermore pleasing face in the fresco, Battin proposed a diagnosis of hypopituitary dwarfism [6]. The difference between achondroplasia and hypopituitary dwarfism in paintings of Il Veronese has recently been published and can be used for comparison purposes [8]. In our original contribution [2], we agreed with Battin's interpretation of the painting that the maid was affected by hypopituitary dwarfism. However, the presence of five fibromas on the face and one on the hand, five café-au lait-spots on the cheeks and one on the chin, several Lisch nodules in the left and right irises, a larger than average head, short stature, and a deformed right index finger led us to surmise that she was also affected by neurofibromatosis type-1 syndrome (NF-1-S) [2]. Before Aldovrandi's description of a case of NF-1-S (1592), some antique illustrations may be considered as the earliest examples of