Neonatal death dwarfism. (A further report).
Seven cases of rare "Neonatal Death Dwarfism" observed recently in three major Children's Hospitals in Australia are reported. These include Diastrophic Dwarfism, Achondrogenesis II, Lethal Form of Hypophosphatasia, Homozygous Achondroplasia, Minor Form of Asphyxiating Thoracic Dystrophy, Achondrogenesis II (?) and Unclassified Lethal Bone Dysplasia. In all the patients the clinical diagnosis was uncertain or incorrect, whereas a conclusive radiographic diagnosis could be made after X-ray examination in all but one of the cases. Skeletal survey should be performed in each case of neonatal death dwarfism.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005260:Female; D005313:Fetal Death / Q000000981:diagnostic imaging*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013909:Thorax / Q000002:abnormalities