Dysmorphology and teratogenesis

Dysmorphology is the study of malformations arising from
abnormal embryogenesis. A significant birth defect affects
2–4% of all liveborn infants and 15–20% of stillbirths.
Recognition of patterns of multiple congenital malformations
may allow inferences to be made about the timing, mechanism,
and aetiology of structural developmental defects. Animal
research is providing information about cellular interactions,
migration and differentiation processes, and gives insight into
the possible mechanisms underlying human malformations.
Molecular studies are now identifying defects such as
submicroscopic chromosomal deletions and mutations in
developmental genes as the underlying cause of some
recognised syndromes. Diagnosing multiple congenital
abnormality syndromes in children can be difficult but it is
important to give correct advice about management, prognosis
and risk of recurrence.