A case of probable Bohring-Opitz syndrome with medulloblastoma.

摘要

Bohring-Opitz syndrome (BOS) is a rare disorder comprising of multiple specific congenital abnormalities, fewer than 30 cases have been reported worldwide in total. BOS was first identified from cases of the heterogeneous group ascribed as having Opitz C syndrome (Bohring et a/., 1999). The key features described are facial anomalies (bitemporal narrowing, upslanting palpebral fissures, hypoplastic supraorbital ridges, retro-gnathia, depressed nasal bridge, low-set dysplastic ears, facial haemangiomas/flammeus nevus, low hairline, broad alveolar ridges and high unusual palate occasionally with clefting), short stature, joint contractures/dislocations, feeding difficulties, and a susceptibility to infections often with a poor prognosis, but with many other features reported in some. All of the cases described, with the exception of one pair of siblings, have been sporadic cases and the inheritance pattern and cause are unknown.