Case #5 Translocational Down Syndrome Flashcards
Patient’s mother’s History
Shawana Ubo mother, 23 years old
Bbay girl that was 2500 grams, 30 week gestation
Baby Hx
decreased muscle tone
low birith weight
protential for developing respiratory issues b/c baby is not full term
Facial features
nasal root, flattened maxillary and malar region
produces characteristic appearance fo trisomy 21
Facial profile is flater than normal (middle and right image)
Hands and feet are short and rounded and may have a palmar (plantar) crease.
Hypotonia is present
Floppy Infant Syndrome (FIS)
consider it as a potential Dx
What diseases have infant hypotonia as a symtpom (8)
- Krabbe disease
- Prader-Willi Syndrome
- Aicardi syndrome
- Myasthenia gravis,
- Kernicterus
- Muscular Dystrophy
7, Rett’s Syndrome - Spinal muscular atorphy
- Marfan’s syndrome
Krabbe syndrome
CNS disorder;
globoid cell leukodystorphy
autosomal recessive
Prader-Willi syndrome
Chromosome 15q deletion
exhibits genetic imprinting (differnt phenotype with paternal versus maternal inheritance)
Aicardi syndrome
X-chromosome mutation
ass with absence of corpus callosum
Myasthania Gravis
autoimmunie disease of NMJ
Kernicterus
Bilirubin-induced brain dysfunction
Muscular Dystrophy
X-linked damage to skeletal muscle
Rett’s syndrome
Nuerodevelopmental disorder ass. with microencephaly, small hands and feet
Marfan’s Syndrome
autosomal dominant mutation in CT with mutaiton in FBN1 which assocaites with tumor necrosis factors B-1 (TNF-Beta)
Spinal Muscular Atrophy
Collection of genetic muscle mutations both autosoal and sex-liinked
most of thema re recessive in inheritance pattern
Baby Barika’s symptoms
dysmorphic features including upslanting palpebral fissures, epicanthal folds, poor moro reflex
What was Barika’s cardiac exam
prouces holocystolic murmur
What were Barika’s hands lke
short with wtout and stubby fingers
Prominant palmar crease
What are signs and symptoms caused by FAS (5)
- low birth weight
- small head circumference
- fialture to thrive
- organ dysfunction
- facial abnormalities, inclduing smaller eye openings, flattened cheekbones, and indistinct philtrum (underdeveleoped groove between ose and upper lip)
B/c of FAS, as child maturees, may exihibit
epilepsy
developmental delay
poor coordination/fine otor skills
poor socialization skills, such as difficulty buidlign and maintinta freinsdhips and relatting to groups
lak of imagination or curiosity
learnng difficulties including poor memeroy, inability to understand concepts sucha s time and money, poor language comprehension, poor problem-solicng skills
behavior prolbems including hyperactiivyt, inabiltiy to concentrate, scial withdrawal, subborness, impulsiveness, asnxiety
What is moro relex-
remove body weight of baby from pad, rleease head and allow it to fall back again, normal response is for baby to have startled look, arms shoudl move sideways with palms upa nd thumbs flexed, may cry for a minute, as reflex ends,infatn draws its arms back to body with elbows flexed, then rlexases
Absence moro reflex on both sides uggest
damage to brain or spinal cord
Absene on only one side
suggests ether broken clavicle or injruty to brachial plexus
What is a holosystolic murmur
murmur heard throughout all of systole and can be ass. with a mitral valve or tricupside valve regurgition or ventricular-septal defect
what is a TTE
transthoracic echocardiography (TTE) is a protable and noninvasive and provides rapid sonogram of heart
What is the clinical trial called?
Biology Study of Transient Myeloproliferative Disorder (TMD) in cChildren with Down Syndrome
What is the rationale of clinical trial
Studying the genes expressed in sampels of blood from patients with DS may help doctors ID biomarkers related to cancer
Purpose of clinical trial
to looka t blood samples from newborns with DS.
Necessary to est database of ino of inants iwth gentic disorder only, cancer only, and comorbi presentation of both diseases