CONGENITAL 1.3 (based on Agsa T) Flashcards
“What causes Angelman Syndrome?”
Loss or mutations of the maternally-derived UBE3A gene on chromosome 15.
“What are the key physical features of Angelman Syndrome?”
Developmental delay, microbrachycephaly, widely-spaced teeth, prominent mandible.
“What are the speech and language characteristics of Angelman Syndrome?”
Profound language delays with minimal or no speech; receptive language and nonverbal skills are better than expressive skills.
“What are the movement and behavioral characteristics of Angelman Syndrome?”
Jerky, ataxic gait with raised arms; hyperactivity; happy, smiling demeanor.
“What genetic abnormality causes Williams Syndrome?”
Contiguous gene deletions in the 7q11.23 region.
“What are the characteristic facial features of Williams Syndrome?”
Elfin face, long brow, low nasal bridge, broad philtrum, small widely spaced teeth.
“What personality traits are associated with Williams Syndrome?”
Gregarious personality, smiling demeanor, very active.
“What cardiac and metabolic abnormalities are seen in Williams Syndrome?”
Supraclavicular aortic stenosis, infantile hypercalcemia.
“What eye feature is characteristic of Williams Syndrome?”
Blue eyes with a starry pattern.
“What is global developmental delay?”
A delay in all domains of development.
“What causes Mucopolysaccharidoses (MPS)?”
An inborn error of metabolism affecting glycosaminoglycan metabolism.
“What are the three main types of Mucopolysaccharidoses?”
Hurler syndrome (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome (MPS III).
“What enzyme deficiency causes Hurler syndrome (MPS I)?”
Alpha-L-iduronidase deficiency.
“What enzyme deficiency causes Hunter syndrome (MPS II)?”
Iduronate-2-sulfatase deficiency.
“What inheritance pattern does Hurler syndrome (MPS I) follow?”
Autosomal recessive (AR).
“What inheritance pattern does Hunter syndrome (MPS II) follow?”
X-linked.
“What substance accumulates in Sanfilippo syndrome (MPS III)?”
Heparan sulfate.
“What are key clinical features of Mucopolysaccharidoses?”
Global developmental delay, hepatosplenomegaly, dysmorphic features.
“What genetic abnormality causes Fragile X Syndrome?”
Trinucleotide (CGG) repeat expansion in the FMR1 gene.
“What are key physical features of Fragile X Syndrome?”
Large ears, long narrow face, midface hypoplasia, large lips, prominent jaw.
“What are key behavioral features of Fragile X Syndrome?”
Moderate-severe developmental delay, macroorchidism, hyperactivity, aggressiveness, autism, ADHD.
“What percentage of boys with autism have Fragile X Syndrome?”
1-2%.
“How is Fragile X Syndrome diagnosed?”
Molecular analysis of the FMR1 gene.
“What are additional features of Fragile X Syndrome?”
Crowding high arched palate, mitral valve prolapse, neurobehavioral abnormalities.
“What are the key clinical features of Noonan Syndrome?”
Motor developmental delay, short stature, congenital heart disease (pulmonary valve stenosis or hypertrophic cardiomyopathy).
“What are the characteristic facial features of Noonan Syndrome?”
Hypertelorism, low-set/abnormally shaped ears, vivid blue or blue-green irises.
“What are additional physical features of Noonan Syndrome?”
Curly hair (even if parents don’t have curly hair), prominent head, deep groove in the philtrum.
“What are the neonatal features of Noonan Syndrome?”
Down-slanted palpebral fissures, prominent excess nuchal folds, edematous dorsum of hands/feet.
“What is the second most common syndrome after Down Syndrome?”
Cornelia de Lange Syndrome.
“What is the cognitive impact of Cornelia de Lange Syndrome?”
Moderate to severe intellectual disability.
“What are the characteristic facial features of Cornelia de Lange Syndrome?”
Synophrys (confluent eyebrows), arched eyebrows, long eyelashes, microcephaly, low hairline.
“What are additional clinical features of Cornelia de Lange Syndrome?”
Hearing loss, autism, cardiac septal defects, hypoplastic genitalia.
“What is the inheritance pattern of Cornelia de Lange Syndrome?”
X-linked or autosomal dominant.
“What causes Fetal Alcohol Syndrome (FAS)?”
Alcohol intake during pregnancy.
“What is another name for Fetal Alcohol Syndrome (FAS)?”
Fetal Alcohol Spectrum Disorder (FASD).
“Why is gestational history important in diagnosing congenital problems?”
Because the insult usually takes place in utero.
“What are the key neurodevelopmental features of Fetal Alcohol Syndrome?”
Developmental delay, intellectual disability, hyperactivity, failure to thrive, microcephaly, and cardiac defects.
“What are the characteristic facial features of Fetal Alcohol Syndrome?”
Short palpebral fissures, short upturned nose, smooth long philtrum, thin vermillion border of the upper lip.
“What are the characteristic limb abnormalities in Fetal Alcohol Syndrome?”
Small fingers and fingernails.
“What are essential steps in evaluating a dysmorphic child?”
Good history, thorough physical examination, reference comparison, and pattern recognition.
“What physical assessments should be performed on a child with suspected FAS?”
Head-to-toe physical examination and developmental assessment (motor, language, behavior).
“Why is it useful to examine family photographs in cases of dysmorphic children?”
To identify any resemblances or similarities to grandparents, parents, and siblings.
“How should parents be guided through the diagnostic process of FAS?”
Explain the need for various tests and the importance of developmental assessment.
“What is the most important aspect of managing congenital brain and nervous system abnormalities?”
Prognostication.
“What specialists are involved in managing Fetal Alcohol Syndrome?”
Pediatrician, neurologist, geneticist, physical therapist, occupational therapist, social workers.
“Is there a cure for Fetal Alcohol Syndrome?”
No, but management aims to maximize the child’s full potential.
