tolito
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PIERRE ROBIN
hypoplasia mandible
- microglossia
- glossoptosis
- cleft soft palate
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| tolito
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POTTERS
- bilateral renal agenesis
- pulm hypoplasia
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| tolito
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FETAL ALCOHOL SYN
- mental retardation
- microcephaly
- cardiac anomalies...septal defects, TOF, coarctation of aorta
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| tolito
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DOWN
- mental retardation
- cardiac anomalies ...endocardial cushion, vsd
- microcephaly
- hypotonia
- brushfeld spots
- clinodactyly
- hypoplastic teeth
- duodenal atresia
- alzheimer
- leukemia
- simian crease
-
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| tolito
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EDWARD
- mental retardations
- overlapping fingers
- poly hydramnios
- microcephaly
- rocker bottom feet
- cardiac anomalies
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| tolito
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PATAU
- mental retardation
- holoprosencephaly
- cutis aplasia
- cleft lip + palate
-coloboma of iris
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| tolito
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TURNER
- mental retardation
- short stature
- gonadal agenesis
- cong lymphedema
- coarctaion of aorta
- bicuspid aorta
- ??ovarian dysgeminoma ( i forget waht happens to the streak gonads)
-horse shoe kidneys
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| tolito
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FRAGILE X
- mental retardation
- large testis
- behaviourla disorders
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| tolito
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KLINEFELTER
- hypogonadism
- fire setting
- small penis, cryptorchidism, hypospadias
- gynecomastia
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| tolito
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ACHONDROPLASIA
- normal intelligence
- short stature
- large head
- hydrocephalus
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| tolito
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WAARDENBURG
- partial albinism
- bil deafness
- vsd
- hirschprung
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| tolito
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PEUTZ JEGHERS
- intussusception
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| tolito
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ATAXIA TELANGIECTASIA
- low iga, ige
- pulm infection
- cancers.... hodgkin, leukemia, sarcoma
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| tolito
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EHLERS DANLOS
- mitral valve prolapse
- glaucoma
-retinal detachment
- asd
- short stature
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| tolito
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MARFAN
- nomal intelligence
- tall stature
- arachnodactyly
- mitral valve prolapse
- pectus excavatum/ carinatum
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| tolito
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PRADER WILLI
- hypomentia
- obesity
- short stature
- hypogonadism
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| tolito
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KALLMAN
- male infertility
- anosmia
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| tolito
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PRUNE BELLY
- undescended testis
- malrotation of intestines
- 95% male
- urinary anomalies
- def ant abd wall
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| tolito
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BECKWITH WIEDERMAN
- macrosomia
- macroglossia
- organomegaly
- polycythemia
- hypoglycemia
- omphalocele
- tumors... wilm's,
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| sheeezooo
Forum Guru
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Posts: 343
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bernard soulier syndrome......................giant platelets
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if u hold up your head with a smile on your face and are truely thankful,u are blessed because the majority can, but most do not..
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| study_ing
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kid with midfacial hypoplasia..u shud think?
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If you yourself are at peace, then there is at least some peace in the world.
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| tolito
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what is answer study_ing?
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| tolito
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alpha 1 anti trypsin def
is assoc with
panacinar emphysema
cirrhosi
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| tolito
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asthma +
1. job syndrome
2. acute bronchopulm aspergillosis
3. chronic eosinophilic pnemonia
4. churg-strauss syn
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| study_ing
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midfacial hypoplasia--Fetal alcohol syndrome..philtrum abnormality very characteristic too
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If you yourself are at peace, then there is at least some peace in the world.
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