Hallermann-Streiff syndrome and osteocraniostenosis

✍ Scribed by Dennis, N. R.; Fairhurst, J.; Moore, I. E.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 38 KB
• Volume: 68
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970110)68:1<108::aid-ajmg23>3.0.co;2-x

✦ Synopsis

We are grateful to Dr. Verloes for drawing attention to his work on osteocraniostenosis and for his comprehensive comparison of this entity with Hallermann-Streiff syndrome (HSF).

We believe that there are a number of distinguishing findings between our cases and the syndrome of osteocraniostenosis as described by Verloes et al. In their description of osteocraniostenosis, "the typical thin, tapering, beaked and pinched nose with slit shaped nares" and "the impressive short mandible" usually present in HSF were not observed; however, these anomalies were seen in both our cases. Distal phalangeal hypo/aplasia and short first metacarpals are described as one of the most important distinguishing signs between osteocraniostenosis and HSF. There is no evidence of drumstick phalanges or first metacarpal hypoplasia in our cases, and close scrutiny of the postmortem films shows ossification of the distal phalanges. There is no convincing platyspondyly in our cases, whereas this was present in osteocraniostenosis. Histopathological findings also differ, as bone spicules in the metaphyseal plate were more slender in our cases.

Only time will tell whether our cases had osteocraniostenosis, a variant of HSF, or a third and separate condition; however, at this stage we are not entirely convinced by Verloes' suggestion.