A NEW LETHAL AUTOSOMAL RECESSIVE SKELETAL DYSPLASIA WITH ASSOCIATED DYSMORPHIC FEATURES

We report a fetus noted on routine ultrasonography at 21 weeks gestati on to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonatal period. At necropsy, the mai n skeletal features were abnormal vertebrae with variation in shape an d size, and ossification centres, short angulated long bones with dist orted metaphyses and multiple abnormalities and fusions of the phalang es and metacarpals. In addition there was hydrops fetalis, a `digit li ke' appendage overlying the left biceps muscle, a small chest with pul monary hypoplasia and facial dysmorphism. In a subsequent pregnancy th e fetus was noted at 13 weeks gestation to have nuchal translucency an d bilaterally short femora. The fetus progressively developed hydrops fetalis and intrauterine death occurred at 22 weeks gestation. Post mo rtem examination revealed features very similar to the previous siblin g. We suggest that this a new lethal osteochondrodysplasia syndrome. R ecurrence in female siblings and parents who are double first cousins, strongly indicate autosomal recessive inheritance. (C) Chapman & Hall Ltd.