Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Clinical Features

Majewski et al. (1982) reported a male infant with a 'new' form of microcephalic primordial dwarfism, then called osteodysplastic bird-headed dwarfism. Features were intrauterine growth retardation (as in the other forms), alopecia, microcephaly, receding forehead and chin, large eyes, and large prominent nose. Radiologic examinations showed platyspondyly, 'dysplasia' of the pelvis, elongated clavicles, and enlarged proximal femora. The 'cause' was not clear.

Majewski (1992) gave a full account of a brother and sister and concluded that the facial appearance in this disorder is quite different from that of Seckel syndrome and very similar to that presented in a portrait reproduced as Figure 7 in Bondeson (1992). The profile was particularly distinctive. Bondeson (1993) provided additional information based on a study of the original autopsy report of Caroline Crachami, a patient with MOPD III (see HISTORY). He commented that although bird-headed dwarfism is 'an imprecise as well as an uncouth denomination,' it is the generally applied descriptive term.

Haan et al. (1989) and Meinecke et al. (1991) raised the possibility that MOPD types I (210710) and III represent the same entity.

History

Bondeson (1992) gave a historical account of Caroline Crachami (1815-1824), the Sicilian Fairy, whose mounted skeleton is preserved in the Hunterian Museum of the Royal College of Surgeons in London. Her skeleton is exhibited next to that of Charles Byrne, 'The Irish Giant' (see 102200).