Dysmorphic Syndromes with Pulmonary and Skeletal Anomalies

In this group, those syndromes are considered in which a pulmonary anomaly associated with bone dysplasia appears. They are numerous (e.g., Jeune syndrome, Fraser syndrome). In some syndromes pulmonary alteration is constant, association with skeletal dysplasia. The main ones are lung agenesis, heart defect, thumb anomaly syndrome, and Matthew-Wood syndrome. In these very rare syndromes, the bone anomaly is sometimes not recognizable, being linked as in this case to the thumb, while pulmonary recognition is more easily detectable. The use of genetic counseling and the study of the karyotype can, in Matthew-Wood syndrome, allow prenatal recognition and assess the risk of recurrence