Term
| Trisomy 21 – Neuro/behavioral manifestations |
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Definition
o Psychomotor delay (constant) - hypotonia +++ at birth (hold his head at 6 months, sits at age 1 yr, walks at age 2 yrs). (u see this in all of them, u pick them up and they’re very limp)
o Behavior – affectionate, gentle, cheerful; language difficulties; like to play, to mime, to tidy up meticulously; normal memory
o SEIZURES in 3-9% |
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Term
| Autosomal Dominant Diseases (4) |
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Definition
o Neurofibromatosis I (café au lait spots)
o Huntington Disease – 1:5000, 1:20000
o Nonsyndromic
o CranioSynostosis – early closure of AF |
|
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Term
| Autosomal Recessive Diseases (3) |
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Definition
o Phenylketonuria PKU – 1:12-17000
o Cystic Fibrosis 1:2500 Whites
o Sickle Cell Disease 1:625 AA |
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Term
|
Definition
o Fragile X 1:4000
o Duchenne Muscular Dystrophy 1:4000
o Color Blindness 1:12
o G6PD deficiency 1:10 AA (lots of meds and food give them anemia. Bactrim, Septra, Tylenol, lima beans) |
|
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Term
| Chromosomal Abnormalities (3) |
|
Definition
o Trisomy 21 1:700
o Trisomy 13 1:5000
o Trisomy 18 1:8000 (don’t live longer than age 1) |
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Term
| Trisomy 21 – Down Syndrome (clinical features) |
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Definition
| Clinodactyly, transverse palmar crease (simian crease), gap 1st/2nd toes, flat foot, frequent microcephaly, short neck, flat occiput and brachycephaly; moon-shaped face; flat nasal bridge; “socket” nostrils, hypertelorism (or pseudo-hypertelorism), epicanthus (regresse w/ age), upward slanting palpebral fissures, brushfield spots in the iris (detectable in blue eyes), macroglossia, glossitis exfoliativa (geographic tongue); scrotal tongue at late childhood and in adulthood, mouth frequently open, narrow/high arched palate, late appearing/malformed teeth, atlantoaxial dislocation (over 10 or 11 years old) |
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Term
|
Definition
o Short stature – Turner Syndrome (4’9”) – XO instead of XX, widely spaced nipples, webbed neck, CANNOT straight elbows, open angle of arms
o Obesity – Prader Willi – also tiny GU |
|
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Term
|
Definition
o Macrocephaly – hydrocephalus
o Microcephaly – Fetal Alcohol Syndrome |
|
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Term
|
Definition
o Hypertelorism – Fetal Alcohol Syndrome
o Short palpebral fissure
o Micrognathia – unusually small jaw |
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Term
|
Definition
o Prominent – Fragile X
o Cataract – prenatal rubella
o Corneal cloudiness – congenital cloudiness |
|
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Term
|
Definition
| o Low set – trisomies 21, 18 |
|
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Term
|
Definition
| o Structural anomalies – Trisomies 21, PKU |
|
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Term
|
Definition
| o Hepatomegaly – Tay-Sachs (Hodg. Jews), Gaucher |
|
|
Term
|
Definition
o Marcoorchidism – Fragile X
o Hypogenitalism – Prader Willi |
|
|
Term
|
Definition
o Café au lait – neurofibromatosis
o Eczema – PKU
o Hemangioma – Sturge-Weber |
|
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Term
|
Definition
| o Hirsutism – Trisomy 18, De Lange |
|
|
Term
|
Definition
o Asymmetry of strength and tone –CP
o Hypotonia – Trisomy 21
o Hypertonia – Trisomy 18 |
|
|
Term
| - Fetal Alcohol Syndrome (11) |
|
Definition
o Small size for gestational age or small stature in relation to peers
o Facial abnormalities such as small eye openings
o Poor coordination
o Hyperactive behavior
o Learning disabilities
o Developmental disabilities (e.g., speech and language delays)
o Mental retardation or low IQ
o Problems with daily living
o Poor reasoning and judgment skills
o Sleep and sucking disturbances in infancy
o Smooth philtrum, underdeveloped jaw, thin upper lip, short nose, low nasal bridge, small head, flat midface |
|
|
Term
| newborn screening for metabolic disorders (8) |
|
Definition
o <72 hours, preferably after 24 hrs
o no clinical sx until it is too late
o PKU
o Galactosemia
o Hypothyroidism
o Sickle Cell and other Hemoglobinopathies
o Cystic Fibrosis
o Biotinidase Deficiency
o CAH
o Acylcarnitine panel |
|
|
Term
| Fragile X syndrome: clinical presentation |
|
Definition
Prominent forehead
Long, wide, protruding ears
Large head size
elongated face and flattened nasal bridge
MACROORCHIDISM
Positive family history of suspected learning disability (maybe mom)
Motor and speech delay
Tactile defensives – u go to check the air and the kid (older) gets physically defensive
AUTISTIC |
|
|
Term
| Fragile X syndrome: behaviors |
|
Definition
Hand flapping and wrist biting
Head banging – at 1 yr old, not autism
Poor eye contact (poor social interactions)
i.e. autistic behaviors |
|
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Term
|
Definition
- most common inherited cause of mental retardation
- Heterozygote fragile x state in females is associated with mild learning disability and developmental delay.
- Dx: DNA analysis |
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