GN 1.3.1 Flashcards
What are some of the etiologies of abnormal development?
Chromosomal, Single Gene, Multifactorial, Environment, Epigenetic
What is the multiple congenital anomaly: syndrome?
a primary developmental anomaly of two or more systems due to a common etiology
What is the clinical term for a birth defect?
Congenital Anomaly
What is a good approach to gathering the genetic history of a family?
Creating a pedigree
What are the three types of multiple congenital anomalies?
Syndrome, Sequence, Association
Disruption?
Outside force leading to the breakdown of normal tissue
What is the multiple congenital anomaly: association?
a non-random recurring pattern of malformation with no defined etiology
What are the two categories that influence phenotypic expression?
Hereditary (Dysmorphology) & Environment (Teratology)
What are three important measures of growth during data collection?
Height, Weight, Head Circumference
Malformation?
abnormal formation of tissue from the beginning
What are the causes of malformation, deformation, and disruption?
Malformation: abnormal formation of tissue
Deformation: unusual forces on tissue
Disruption: breakdown of normal tissue
What is dysmorphology?
The study of abnormal morphogenesis, abnormal physical development, congenital anomalies, and syndromes
Name the example of the sequence anomaly given in class.
Pierre Robin sequence
During the examination phase of data collection, what are the four methods of examination?
Observe, Measure, Quantitate, Photograph
What are the three types of problems with morphogenesis?
Malformation, Deformation, Disruption
What types of disorders typically arise from maternal or paternal reproductive issues?
Maternal: non-disjunction events
Paternal: increased risk of dominant dz (older age)
What are the two main types of disruptions?
Vascular disruption and early amnion rupture
When examining morphological changes, what is the most common dysmorphology of ears?
Low set (superior portion of ear below plane created by the outer caruncle)
What are the steps in approaching congenital anomalies?
1) Collect Data
2) Differential Diagnosis
3) Lab and Imaging studies
4) Analysis
5) Additional testing, if needed
6) Definitive Diagnosis, if possible
7) Counseling and Intervention
Deformation?
unusual forces on tissue that causes it to grow a different way than normal
What are the parts of collecting data?
Family history, growth analysis, examination
What are the risks associated with the three phases of prenatal development (period of ovum, embryo, fetus)?
Ovum: lethal
Embryo: major morphological abnormalities
Fetus: functional defects or minor morphological abnormalities
What are some concerns that should be addressed with a pedigree?
Paternal ethnicity, Paternal consanguinity, Infertility issues
What led the Hapsburg lip and jaw?
Consanguinity
What are some common deformations?
Head and neck (cranial molding, mandibular asymmetry)
Limbs
Nerve Compression
At the point in time, what is the diagnostic rate of dysmorphologies?
50%
What is the multiple congenital anomaly: sequence?
a pattern of malformations due to a cascading effect from a single minor alteration early in morphogenesis
What is the condition that is caused by vascular disruption, which leads to underdevelopment of one side of the face?
OAV (oculoauriculovertebral spectrum)
