Marfan's Syndrome (Arachnodactyly) with Arthrogryposis (Amyoplasia Congenita)

A severe form of congenital contractural arachnodactyly in two newborn infants

“…There was no family history of CCA in either case. Our observations, as well as those of some others [Bard, 1979;Ho and Khoo, 1979;Lipson et al, 1974;Penchaszadeh et al, 1975;Ramos Arroyo et al, 1985;Reeve et al, 1960;Tamminga et al, 19851 provide evidence that CCA may be a clinically and etiologically heterogeneous condition.…”

“…However, the presence of several nonskeletal malformations in patient 1 indicates that she had a true multiple congenital anomaly syndrome. It is unclear whether or not these additional features justify the suggestion of a separate entity, but our obvservations, as well as clinical evidence in certain other patients with features of CCA [Bard, 1979;Ho and Khoo, 1979;Lipson et al, 1974;Penchaszadeh et al, 1975;Ramos Arroyo et al, 1985;Reeve et al, 1960;Tamminga et al, 19851, raise the possibility that CCA is clinically and etiologically hetereogenous.…”

Congenital contractural arachnodactyly Report of four additional families and review of literature

“…Patients with congenital contractural arachnodactyly show congenital joint contractures of both large and small joints which may undergo spontaneous resolution with time. A few individuals reported to have the Marfan syndrome have had joint contractures (Reeve et al 1960, Ghosh 1966. When present in documented cases of Marfan syndrome, the contractures are not congenital, involve the hands and feet rather than the elbows, hips and knees, and may become worse with time (Beals & Hecht 1971).…”

Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly

“…Beals and Hecht [1971] proposed the name congenital contractural arachnodactyly (CCA) for a pleiotropic condition of congenital contractures at small and large joints, thin narrow limbs, arachnodactyly, scoliosis, "crumpled" or abnormal external ears, and autosomal dominant inheritance. Previously, similar cases had been called arachnodactyly with arthrogryposis but [Reeve et al, 1959;Traisman and Johnson, 19541. The literature on this subject after Beals and Hecht's [19711 original description contains reports of CCA cases with mitral valve prolapse, aortic root dilatation, mitral regurgitation, congenital heart defects, keratoconus, and myopia but no lens dislocation.…”