Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts

Abstract

We describe a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. The patient was considered as a case of Nievergelt syndrome, a rare form of mesomelic dysplasia. Besides the characteristic mesomelic limb anomalies of Nievergelt syndrome, this patient exhibited two additional features: agenesis of the cerebellar vermis and cataracts, both of which have not been previously reported.

Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report

“…The concomitance of rhomboid-shaped fibulae and tibiae distinguished our case from that case [8] . In addition, Tuysuz et al described a case similar to ours, with short and triangular-shaped tibiae and fibulae, but no upper limb abnormalities except for the hands [5] .…”

“…According to our review, there is a clear gap in the literature regarding the orthopedic management of mesomelic limb deformities due to NS. However, none of these studies were designed to illustrate the surgical planning of the management of the orthopedic deformities of this rare syndrome [2] , [4] , [5] , [6] , [7] , [8] , [12] . The limb lengthening and deformity corrections using an external fixator yielded successful functional (ambulatory) and cosmetic outcomes in the orthopedic treatment of our case, despite her equinus contractures.…”

“…With an autosomal dominant pattern of inheritance, Nievergelt syndrome (NS) is rare, but it is the most severe form of mesomelic dysplasia and was first described by Nievergelt in 1944. This disorder can be distinguished by distinctive triangular or rhomboid-shaped rudimentary bones of the lower legs and radioulnar dislocation [2] , [3] , [5] . A few NS case reports have been reported previously in the medical literature, but most of these were focused on the clinical and radiological characteristics of the disease [1] , [2] , [4] , [5] , [6] , [7] , [8] , [9] .…”

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

“…The mesomelic dysplasias comprise a heterogeneous group of disorders. The current International Nosology and Classification of Constitutional Disorders of Bone [Hall, 2002] lists 12 recognized forms of mesomelic dysplasia, including dyschondrosteosis [Léri and Weill, 1929;Schiller et al, 2000], Langer type [Langer, 1967;Balci et al, 1999], Nievergelt type [Nievergelt, 1944;Vasil et al, 1997;Tü ysuz et al, 2002], Kozlowski-Reardon type [Kozlowski et al, 1993;Reardon et al, 1993], ReinhardtPfeiffer type [Reinhardt and Pfeiffer, 1967;Bhatia and Joseph, 2000], Werner type [Werner, 1915;Kozlowski and Eklof, 1987;Hesselschwerdt and Heisel, 1990;Goldenberg et al, 2003], dominant and recessive Robinow types [Robinow et al, 1969;Teebi, 1990;Webber et al, 1990;Samoud et al, 1993], mesomelic dysplasias with synostoses [Verloes and David, 1995], Savarirayan type [Savarirayan et al, 2000], and Kantaputra type [Kantaputra et al, 1992;Shears et al, 2004]. With the exception of a few disorders, the molecular bases underlying most of the mesomelic dysplasias are not known.…”