62 Mesomelic Dwarfism, Nievergelt Type
Mesomelic dysplasia Nievergelt type, Nievergelt syndrome
Mesomelic shortening of lower limbs (occasionally al- so of upper limbs), restricted elbow mobility, clubfoot Frequency: Rare.
Genetics
Autosomal dominant (OMIM 163400) with variable expression.
Clinical Features
• Short-limb dwarfism identifiable at birth, with marked shortening of lower legs and occasionally of forearms
• Normal head and facies
• Restricted elbow extension and forearm supina- tion (due to radioulnar synostosis)
• Medial deviation of hands at the wrist
• Bony protuberances, cutaneous dimples at lower legs, valgus deformity at knees
• Atypical clubfoot with prominent equinovarus deformity
Differential Diagnosis
• Other mesomelic dysplasias
• Grebe dysplasia
Radiographic Features Limbs
• Marked hypoplasia and deformation of tibia (triangular or rhomboid appearance) and fibula (often less affected than tibia)
• Occasionally, marked hypoplasia of radius and
• Radioulnar synostosis, elbow dysplasia, radial head ulna subluxation or dislocation
• Carpal fusion
• Brachydactyly, clinodactyly
• Tarsal/metatarsal synostosis
• Clubfoot
• Genu valgum
Bibliography
Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Dubois HJ. Nievergelt-Pearlman syndrome: synostosis in feet and hands with dysplasia of elbows. Report of a case. J Bone Joint Surg Br 1970; 52: 325–39
Hess OM, Goebel NH, Streuli R. Familiärer mesomeler Klein- wuchs (Nievergelt-Syndrom). Schweiz Med Wochenschr 1978; 108: 1202–6
Kaitila I, Leisti JT, Rimoin DL. Mesomelic skeletal dysplasias.
Clin Orthop 1976; 114: 94–106
Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K. Mesomelic dysplasia with absence of fibulae and hexa- dactyly: Nievergelt syndrome or new syndrome? Am J Med Genet 1990; 37: 10–4
Young LW, Wood BO. Nievergelt syndrome (mesomelic dwarfism-type Nievergelt). Birth Defects Orig Art Ser 1974;
5: 81–6 Mesomelic Dwarfism, Nievergelt Type
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Mesomelic Dwarfism, Nievergelt Type 763
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Fig. 62.1 a–c. Patient 1: Note severe shortening and deformity of tibias and fibulas. a, b At 2 years, tibias appear rhomboid, while fibulas display a triangular configuration. Note absence of proximal tibial epiphyses. c At 5 years, although some longi-
tudinal growth has occurred both bones are still markedly short and broad, with the tibia showing a triangular configura- tion in the lateral projection, with the apex pointing anterior- ly. (Reprinted, with permission, from Canepa et al. 1996)
a b c
