Jev. Morton et al., A NEW LETHAL AUTOSOMAL RECESSIVE SKELETAL DYSPLASIA WITH ASSOCIATED DYSMORPHIC FEATURES, Clinical dysmorphology, 7(2), 1998, pp. 109-114
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.