In 1994, we suggested the existence of a "new" lethal bone dysplasia we named osteocraniostenosis [Verloes et al., 1994]. The skeletal anomalies consisted of extremely thin, dense, easily fractured, and misshapen fishbone-like diaphyses with almost absent medullary lucency, flared metaphyses ("drumstick-shape bones"), mild micromelic dwarfism of intrauterine onset, poorly mineralised cranial vault with premature synostoses, platyspondyly, and brachydactyly. It was observed in 3 unrelated fetuses. Those babies also had a flat face, hypoplastic midface with short or flat, but not a narrow nose, deep nasal root, inverted V-shape mouth, and acrocephalic head with bulging frontal and parietal areas, compatible with a cloverleaf skull deformity. Pathological investigations showed abnormalities of the metaphyseal cartilage in the 2 fetuses we could examine and epiphyseal dysplasia in one of them. We considered 3 previously reported cases published in 2 heterogeneous series of fetuses with slim bones and intrauterine fractures (case 1 and 3 in Kozlowski and Kan [1988] and case 6 in Maroteaux et al. [1988]) as affected by the same MCA syndrome. We excluded the diagnosis of Hallermann-Streiff-François syndrome (HSF) in our cases, considering the absence of characteristic facial changes and the presence of distinctive X-ray anomalies.
In a recent report of this journal, Dennis et al.
[1995] described 2 sibs with a pattern of anomalies strikingly similar to that of our cases. They did not mention our article in their discussion, nor Maroteaux's work, but as we did, they noted similarities with case 1 in Kozlowski's report. They based their diagnosis and discussion on a review of radiological aspects in HSF syndrome [Christian et al., 1991] describing 5 cases of HSF, 2 of them (cases 1 and 2) with drumstick-shape long bones. Patient 2 in that article had X-ray findings similar to those of our cases and died of heart failure of unknown etiology at age 1 month. Patient 1 showed similar long bone X-ray findings (although with a milder metaphyseal flare), no fractures. Hands were not illustrated, and she was lost to follow-up. Unfortunately, those 2 children were not illustrated.