GENETICS Flashcards by Bao Truong

Cranial MRI shows enhancing lesions in the region of bother internal auditory canals, extending into cerebellopontine angles

What is this finding? Which condition is it associated with?

Bilateral acoustic neuromas

NF-2

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Hearing loss, visual disturbances, tinnitus, CN abnormalities, gait disturbances, headache

What is the condition? What is the key finding defining this condition?

NF-2

Schwannomas

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Skin findings of NF-1 ? (3)

1 - Cafe-au-lait spots
2 - Axillary / inguinal freckles
3 - Neurofibromas

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Ocular finding in NF-1

Lisch nodule (iris hamartomas)

(require ophthal exam with slitlamp)

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Ulcerated, noninflammatory, well-dermacated congenital absence of skin, limited to small localized area

What is the finding? Which trisomy is it associated with?

Aplasia cutis congenita (ACC)

Trisomy 13

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Rocker bottom feet

What condition?

Trisomy 13

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Valgus deformity of elbow, hyperconvex finger nails

What condition?

Turner syndrome (45 X)

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Webbed neck, low posterior hairline, broadly spaced nipples

What condition?

Turner syndrome

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Prominent hirsutism, oligodactyly

What condition?

Cornelia de Lange syndrome

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What is the common cause of sudden death in Duchenne?

Arrhythmias and conduction system disease that accompany cardiomyopathy

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Hypertension in NF1 is caused by …

Renal artery stenosis (from a neurofibroma in the artery!)

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Mode of inheritance of Marfan syndrome

Autosomal dominant

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What is another syndrome that homocystinuria resemble? How to tell them apart?

Marfan syndrome

Marfan: normal IQ + upwardly displaced lens
Homocystinuria: low IQ + downwardly displaced lens (DOWN)

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Easily excited, often with bursts of laughter in socially awkward or inappropriate manner

What condition?

Angelman (“happy puppet”)

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What are 2 syndromes caused by same mutation on chromosome 15?

Prader-Willi and Angelman

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What are 2 syndromes caused by same mutation on chromosome 10?

Apert and Crouzon

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Severe thrombocytopenia and congenital heart disease

What is the syndrome? What is another typical finding?

Thrombocytopenia with absent radius (TAR)

Bilateral radial aplasia

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Long eyelashes, thin “brushed-on” eyebrows that are often confluent

What is the syndrome? What is a distinctive feature?

Cornelia de Lange syndrome

Hirsutism

Hypermobility or instability of the atlantoaxial joints

What condition?

Trisomy 21

Whitish spots in a ringlike configuration in the periphery of the iris

What are they? What is the underlying condition?

Brushfield spots

Trisomy 21

Bicoronal synostosis, maxillary hypoplasia, intellectual disability

What is the syndrome?

Apert syndrome

Neonate with redundant nuchal skin folds, puffiness of hands and feet, horseshoe kidney

What is the syndrome?

Turner syndrome

Maxillary hypoplasia, cleft palate, hypoplasia of lower eyelids associated with absent lower eyelashes

What is the syndrome? What is the characteristic issue of this syndrome? What is a common complication that should be screened?

Tracher-Collins syndrome

characterized by midface and mandibular dysmorphology

Should be screened for conductive hearing loss

Upward displacement of shoulders and abnormal scapula rotation while being picked up in a 4 years old

What is going on ?

Duchenne muscular dystrophy

Long, narrowed face with a small mouth, narrow palpebral fissures, micrognathia, short stature, cryptochordism What is the condition?

DiGeorge

What is an electrolyte abnormality associated with DiGeorge?

Hypocalcemia

What are 2 eye features of NF 1?

1 - Optic glioma 2 - Lisch nodules (iris hamartomas)

5What are 2 distinctive osseous lesion in NF1?

1 - Sphenoid dysplasia 2 - Thinning (bowing) of the long bone cortext (with or without pseudoarthrosis)

Upslanted papebral fissures, prominent tongue, mild hypotonia What is the condition?

Trisomy 21

What are 2 most notable GI malformations in Trisomy 21?

1 - Duodenal atresia 2 - Hirschsprung disease

Chronic cholestasis and paucity of interlobular bile ducts What is the condition? Mode of inheritance?

Alagille syndrome Autosomal dominant

Hopotonic and significant feeding difficulties, failure to thrive at birth. However, start having excessive weight gain at 1 year of life What is the condition? What are 3 main long-term complications

Prader-Willi Syndrome 1 - Morbid obesity (and its common associated complications) 2 - Growth hormone deficiency -> short-stature 3 - Learning disabilities / low IQ

Streak gonads, short stature in a girl What is the condition?

Turner syndrome

Peripheral pulmonic stenosis, poor weight gain, "butterfly vertebrea" What is the condition? What is the characteristic issue?

Alagille syndrome Reduced number of interlobular bile ducts

Triad of micrognathia, glossoptosis, and resultant airway obstruction What is this triad called? What is the most commonly associated syndrome?

Pierre Robin sequence Commonly associated with **Stickler syndrome**

Where is the mutation causing NF1?

Long arm of chromosome 17

Which genetic syndrome associated with spontaneous pneumothorax?

Marfan

Mode of inheritance of NF1

Autosomal dominant

Young infant with extreme irritability, fever, and soft tissue swelling associated with subperiosteal cortical thickening of the underlying bone especially at the maxilla. What is the disorder? What are typical lab results? (2)

Caffey disease (aka infantile cortical hyperostosis - a frequent mimicker of non-accidental trauma) 1 - Increase serum AlkPhos 2 - Increased ESR

Echo of infant shows an echogenic, well-defined mass located in upper portion of interventricular septum, blocking the LV outflow tract What is this condition? What is the associated neuro complications?

Cardiac rhabdomyoma Infantile spasms and seizures

Newborn with frontal bossing, large HC, small length What is the condition? Mode of inheritance

Acondroplasia Autosomal dominant

Disproportionately long limbs, tall What are 3 disorders that both have this? How to distinguish?

1 - Marfan 2- Homocysteinuria 2 - Klinefelter Marfan usually has normal IQ, Klinefelter has mild learning disabilities, behavioral disorders Marfan has UPward subluxation of lens, Homocystinuria has DOWNward subluxation of lens

4 components of WAGR? Where is the gene deletion located?

1 - Wilm's tumor 2 - Aniridia 3 - GU anomalies 4 - Reduced intellectual abilities Deletion on chromosome 13