Neonatal Death Dwarfism: (Report of 17 cases)

Abstract

17 cases of neonatal death dwarfism are reported. They include Majewski syndrome, Meckel syndrome, Homozygous Achondroplasia, Rhizo-melic type of Punctate Epiphyseal Dysplasia, Cloverleaf Skull syndrome, Lethal form of Osteo-genesis Imperfecta, Campomelic Dwarfism and Achondrogenesis syndromes. The authors believe that there are four well differentiated types of Achondrogenesis which can be recognised on x-ray examination alone. These are Achondrogenesis I as reported by Parenti31 and Fraccaro4, Achondrogenesis II as delineated by Goard and Kozlowski5 as “Thana-tophoric Dwarfism II”, and Achondrogenesis III as reported by Hams et al.8 as “Pseudoachondro-genesis with Fractures”. Three cases of neonatal death dwarfism — two of them familial — with some distinct features are reported and a tentative designation of Achondrogenesis IV is proposed. The authors regard as unlikely the possibility that Achondrogenesis IV may represent different stages or a variant of Achondrogenesis I, II or III. In every case of neonatal death dwarfism, photographs, radiographs, biochemical, histological and histochemical studies should be performed. This may help to classify this group of diseases and finally establish the causative biochemical defect.