Constitutional osteochondrodysplasias identifiable at birth. A short review on the state of the art in radiodiagnosis in the late 20th century.

INTRODUCTION: The value of a systematic radiologic analysis in constitutional osteochondrodysplasias remains underestimated by both neonatologists and radiologists. We report the clinical experience of the Department of Neonatology and Neonatal Intensive Care Unit of St. John Hospital in Rome with constitutional osteochondrodysplasias identifiable at birth.

MATERIAL AND METHODS: We reviewed 2120 cases of newborns hospitalized in our unit from January 1996 to August 1998 and here submitted to at least one direct radiograph of chest and abdomen (the so-called "babygram"). All the newborns were clinically assisted by the same three neonatologists and radiologically followed by the only pediatric radiologist, the external consultant for diagnostic imaging of the Intensive Care Unit of the Neonatology Department.

RESULTS, DISCUSSION AND CONCLUSIONS: We diagnosed 14 cases of constitutional osteochondrodysplasias (.66%): 4 of them (28.27%) belong to the group considered by the European Society of Pediatric Radiology (ESPR) as lethal before or immediately after birth, while the other 10 (71.43%) belong to different groups of the ESPR classification. Thus, we arbitrarily grouped them into a single pathologic condition, based on their two main features: being generally not lethal and always or very often identifiable at birth. These 10 cases were: 1 campomelic dysplasia, 3 achondroplasias, 2 asphyxiant thoracic dysplasias type Jeune, 1 cherubinic dysplasia, 2 osteogenesis imperfectae, 1 osteopetrosis. We justify the relatively high incidence of constitutional osteochondrodysplasias in our study (.66% versus an average incidence of .076% reported in the world population) on the basis of: a) an increasing number of high-risk newborns in our intensive care unit; b) an improvement in our clinical and radiologic diagnostic skills. We conclude that the state of the art of the diagnosis of constitutional osteochondrodysplasias is still based on the first plain X-ray examination performed at birth because of cardiorespiratory and/or abdominal diseases in the newborn.