Week 1: Intro and dysmorphology Flashcards
The best testing choice for a patient with developmental delay, ASD, and non-specific dysmorphic features would be
CMA
-First tier test for DD, ASD, birth defects, multiple congenital anomalies
-However, some practices switching over to exome with CNV analysis especially in cases of NICU babies
If CMA is negative, what could next steps be?
-Consider how severe or dysmorphic child is
-Autism or ID panel (if so, how big?)
-Genome/exome
More severely affected/larger fhx= greater chance to find answer
What is the most common cause of heart defect? What is first tier testing for heart defects?
-Usually multifactorial/unexplained, might be coincidence
-First tier still CMA, chromosome anomaly severe enough to cause CHD, seizures, short stature, most likely also cause delays
Name reasons for short stature in a patient
-Genetic condition
-Hormone issues
-Slow grower
-Familial genetics
-Poor nutrition
If seizures present with normal intelligence, is the underlying genetic cause more likely to be a sequence variant or a CNV?
Seizures often due to sequence variant, not CNVs, especially if normal intellgence
Differentiate DD from ID
-Delays=child is behind on 1+ of early milestones, confers increased risk for ID
-ID can’t be diagnosed until 5 or older
-AAP says term DD should be reserved for children 5yo and under
Label the following presentations as genetic testing being usually warranted or probably not warranted:
-GDD
-ADHD
-Mild gross motor delay
-Specific learning disability
-Speech/language delay:
-Delayed dev milestones
-Speech articulation issues:
-GDD: usually
-ADHD: prob not
-Mild gross motor delay: prob not
-Specific learning disability: prob not
-Speech/language delay: usually
-Delayed dev milestones: usually
-Speech articulation issues: prob not
T/F fragile X testing is still considered a first tier test for ID and ASD
Nope unless physical exam of fhx suggests
Roughly what is the testing yield for CMA for dev delays?
10-20%
Roughly what is testing yield for exome for dev delays?
30-35%
Roughly what is the yield for doing all the testing (CMA, fragile X, sequence variants, etc) for dev delays?
30-35%
See dysmorphology lecture??
ya
A triangular head can often be associated with what syndrome?
Russel silver syndrome
A square head can often be associated with what syndrome?
CHARGE syndrome
A narrow head can often be associated with what type of disorders?
connective tissue disorders
A flat face can often be associated with what syndrome?
Stickler syndrome
Malar flattening can often be associated with what syndrome?
Marfan syndrome
Midface protrusion or hypoplasia can often be associated with what syndrome?
Achondroplasia
Upslanted palpebral fissures can often be associated with what syndrome?
T21
Downslanted palpebral fissures can often be associated with what syndrome?
Noonan syndrome
Eyelid clefts or notched eyelids can often be associated with what syndrome?
Treacher collins syndrome
A question mark ear can often be associated with what syndrome?
CHARGE syndrome
Anteverted nares can often be associated with what syndrome?
SLO
A depressed nasal bridge can often be associated with what syndrome?
achondroplasia
A smooth philtrum can often be associated with what syndrome?
FAS
A thin upper vermillion border can often be associated with what syndrome?
FAS
Macroglossia can often be associated with what syndrome?
BWS
Bifid uvula/cleft uvula can often be associated with what syndrome?
Stickler syndrome
Clinodactyly of the 5th finger can often be associated with what syndrome?
T21
Camptodactyly can often be associated with what syndrome?
Escobar syndrome
Oligodactyly can often be associated with what syndrome?
Holt Oram
Polydactyly can often be associated with what syndrome?
T13
Small nails/hypoplastic nails can often be associated with what syndrome?
Coffin Siris syndrome
Hyperconvex nails can often be associated with what syndrome?
Turner syndrome
Pectus excavatum can often be associated with what syndromes or groups of disorders?
-Connective tissue disorders
-Loeys Dietz
-Marfan
