LETHAL ARTHROGRYPOSIS IN FINLAND - A CLINICOPATHOLOGICAL STUDY OF 83 CASES DURING 13 YEARS

Eighty-three cases of multiple congenital joint contractures, i.e., ar throgryposis, which were related with either a stillborn fetus, a term ination of pregnancy following prenatal diagnosis or death within 28 d ays postnatally, were studied. Sixty-seven cases were neurogenic in or igin, including forty-one with the lethal congenital contracture syndr ome (LCCS, McKusick 253310), fifteen with milder anterior horn cell in volvement, and ten with dysgenesis and degeneration of the CNS. Congen ital muscular dystrophy was seen in two cases and nemaline myopathy in one case. A non-neuromuscular basis was established in ten cases, and the cause remained obscure in three cases. Apart from the autosomal r ecessive LCCS, the fifteen cases with anterior horn cell involvement m ade up a uniform clinico-pathological entity In two families this dise ase recurred twice, and autosomal recessive inheritance is therefore l ikely. Recurrence was also seen twice in a family with central nervous system degeneration and in another with the oligohydramnios sequence. There are apparently several recessively inherited entities among the arthrogryposis phenotype. A careful clinical study and a neuropatholo gical examination are essential for estimating the recurrence risk.