IMPORTANT PEDIATRICS SYNDROMES:

Down syndrome:
cause…..Triosomy 21
cp:
Mental retardation
upward slanting palbebral fissure
inner epicanthal fold
open mouth with tongue
protrusion
hypotonia
Hearing loss
Simian crease
Gonadal deficiency
Hypothyroidism
Antanto-axial instability

Very important tips for down:

Most common genetic disorder…..To be continued I
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Most common risk factor……
Most common cause of death…..leukemia( acute
lymphoblastic)
Mentally….. To be continued I mina material full
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Most common CVS abnormality….…. To be continued I
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Most common GIT abnormality…… To be continued I
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Most common endocrine abnormality…..hypothyrosim
Most common spine abnormality….. Antanto-axial
instability
Recurrence rate with Down…..1%
risk of down syndrome by age chart Australia: vvvimp
20……1/870
30…….1/500
35…….1/200
40…….1/100
45……1/25
49……1/10
Klienfelter syndrome:
Genetics…..47XXY
Cp:
tall man
Long limbs
Slim
Hypogonadism….small testis
Decreased testosterone hormone
gynecomastia
Low IQ
Behavioural problems
Turner syndrome: ( 45X0)

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version TTT…..hormonal replacement after puberty

FETAL ALCOHOL SYNDROME:

Most imp cp:
Thin upper lip
Absent or short philthrum
Mental retardation
When grow up???
Irritability and hyperactivity
Safe amount of alcohol during pregnancy To be
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most common cause of MR in Australia…. To be
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How do u screen during pregnancy?.... To be continued I
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Most common CVS anomaly….. To be continued I mina
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Marfan syndrome:
Genetics….AD
Mutation in fibrillin gene
Tall stature
Long slim limbs
Decreased U:L limb ratio
Arachnodactyly
Joint laxity and subluxation
Eye…..upward subluxation of the
lens
Heart….AR
Aortic dissection
Spine…..scoliosis
Pectus excavatum
Ehler-Danlos syndrome:
Genetics….AD
Hyperextensible skin
Easily fragile

Joint laxity
MVP
AR
Aortic dissection
Blue sclera

:Osteogenesis imperfecta
Genetics….AD
Blue conjunctiva

Scoliosis
Recurrent multiple fracture
DD….child abuse
:

Peutz-jeghers syndrome….VVVVV IMP

VVVVVVVV IMP
Genetics……AD
Lips……pigmentation
Colon…..polyps
Risk:
1-intussception
2-colon cancer….SCREENING

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Fetal hydantoin syndromes:…..
Causes:
Drugs….valproic acid, phynetoin, carbamazepine

Fragile x-syndrome:
Genetics:…x-linked
Large ears
Large skull
Large testis
Mental retardation

Not important syndromes:

Edward syndrome : triosomy 18…. Not imp

patau syndrome….not imp

Waldenburg syndrome….not imp

Albinism
Blue eyes
Premature graying

Prader-willi syndrome … not imp

Marked obesity
Marked hypotonia

Angelman syndrome….not imp

Marked laughter
MR
seizures