Human pathology

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developmental anomalies

developmental disorders, inborn errors of development, disorders of morphogenesis

Types

- deformations
- malformations
- disruptions

Etiology

- chromosomal anomalies

- infectious diseases
- dysimmunity
- teratogenic chemical agents or teratogens (environmental teratogenesis)
- radiations
- ischemic disruptions
- twinning disruption
- thermodisruptive anomalies

- chorioamniotic anomalies

  • chorion-yolk sac rupture
  • amnion rupture (oligoamnios sequence)
  • amniotic anomalies (amniotic adhesion)

- placental anomalies

  • circumvallate placenta disruptions

- uterine anomalies

- maternal disorders

- multifactorial disorders

By systems

- craniofacial developmental anomalies

- nervous system developmental anomalies

- cardiovascular developmental anomalies

- portal vein developmental anomalies
- lymphatic developmental anomalies

- genitourinary developmental anomalies

- splenic developmental anomalies
- neural crest developmental anomalies
- mammalian body plan anomalies
- muscular developmental anomalies
- skeletal developmental anomalies
- bronchial developmental anomalies
- pulmonary developmental anomalies

- digestive developmental anomalies

Classification

- malformative syndromes
- malformative disruptions (secondary malformations)
- malformaive sequences
- malformative associations
- congenital deformations
- congenital dysplasias

Features

- monotopic developmental field defects
- polytopic developmental field defects

Chronology

- 1996: 40% of the malformation and dysplasia syndromes listed in Smith’s Recognizable Patterns of Human Malformation [Jones, 1988] are mapped and/or identified.

Keywords