Clark Flashcards
Deformation
abnormal mechanical force
Breach position results in what?
dislocated hip
Transverse lie results in what?
Micrognathia (facial compression)
Malformation
anomaly caused by intrinsic factors that result in abnormal tissue or defective morphogenesis
What are 4 malformations?
- Adams Oliver syndrome
- Isolated neural tube defect
- Isolated cleft lip/palate
- Vander Woude syndrome
What is a syndrome?
recognizable pattern of anomalies w/a single cause
What are some examples of syndromes?
- Aarskog syndrome
- Cornelia de Lange syndrome
- Kabuki syndrome
- Aneglman syndrome
- Rett syndrome
What is dysplasia?
a pattern of malformations affecting the same tissue type
What are 2 dysplasias?
- X-linked ectodermal dysplasia: plot teeth, thin hair, patchy sweating
- Skeletal dysplasia: achondroplasia, osteogenesis imperfecta
What is an association?
pattern of abnormalities that occur together more often than expected by chance
What is the most common association?
VATER VSD Vertebral defects imperforate Anus Tracheo-esophageal fistula Radial Renal
What is a sequence?
pattern of anomalies in which a primary defect leads to one or more secondary defects
What is one sequence?
Holoprosencephaly: lack of cupid’s bow –> lack of midline frenulum –> single incisor –> deletion of sonic hedge hog –> single nostril
What are some common deletion syndrome?
- Wolf-Hirshhorn syndrome
- Prader-Willi syndrome
- Velo-cardio-facial syndrome
What is the kilo base limit for deletions to be able to be detected using high resolution chromosome studies?
5000
