Genetic

Front 1

Aplasia cutis congenita

Back 1

Pathognomonic of trisomy 13

Front 2

Cri du chat syndrome

Back 2

chromsomal delation

Front 3

OI

Back 3

Type 1 collagen

Blue sclera

Front 4

Denys dransh syndrome

Back 4

ESRD

Front 5

Leigh syndrome

Back 5

lactic acidosis

Front 6

De grouchy syndrome

Back 6

atresia of ear canal

Front 7

De lange syndrome

Back 7

Long eyelashes

Front 8

Waardenburg syndrome

Back 8

partial albinism

white forelock

gray hair

iris heterochromia

cochlear deafness

Front 9

Crouzub syndrome

Back 9

deviated nasal septum

Front 10

Marfan syndrome

Back 10

Losartan, an angiotensin II receptor antagonist that lowers levels of TGF- and may prevent aneurysms in patients with MFS

Front 11

Adrenoleukodystrophy

Back 11

AR

Front 12

Cat eye syndrome

Back 12

is a chromosome duplication syndrome

Front 13

Rett syndrome

Back 13

X-linked dominant

Front 14

Patau syndrome

Back 14

nuclear projections in neutrophil

Front 15

Goldenhar syndrome

Back 15

Large mouth , coloboma

Front 16

Partial AIS

Back 16

Glibert deryfuss syndrome

Lubs syndrome

Refenisten syndrome

Front 17

Meckel gruber syndrome

Back 17

Front 18

klippel feil syndrome

sprengel anamoly

Back 18

short neck,

low posterior hairline and a

limited range of neck movements especially of lateral bending

Front 19

Morque syndrome

Back 19

Absence of odontoed process

Cervical stabilazation

Front 20

Trisomy 8

Back 20

Front 21

Pyridoxine dependent convulsion

Back 21

Glutamic acid decarboxylase deficiency

Gamma aminobutyric acid

Front 22

Glutaric acidemia type I

Organic acid disorder

Back 22

Macrocephaly

Front 23

Tyrosune screening

Back 23

Succinylacetone

Front 24

.

Back 24

Front 25

Maple syrup urine disease

Back 25

Thyamin B1

Front 26

Morbilliform rash / D syndrome

Back 26

Front 27

Fish odor body

Back 27

.

Front 28

Abetolipo

Back 28

Front 29

Fabry disease

Back 29

Lipin inclosuion

Maltese crosses

Front 30

Tarue disease

Back 30

GSD hemolytic anemia

Front 31

Morquio syndrome

Back 31

short trunk dwarsim

skeletal dysplasi

normal IQ

Front 32

Sanfilippo syndrome

Back 32

Slowly progressive

severe CNS sx

Front 33

Leigh disease

Back 33

Suacute necrotitzing encephaloyelopathy

MRI suthalamic neuclaia

Brain stem

basal gangila

Front 34

Sialidosis

Back 34

dysosyosis multiplex

Front 35

Pompe

Back 35

Acid maltase

alpha glucosidace

Front 36

Eryhrobalsyosis fetalis

Back 36

LGA

High insulin

Front 37

Tyrosenimia

Back 37

Boiled cabbage

Front 38

tomcat urine

Back 38

multiple carboxylase deficiency

Front 39

.

Back 39

Front 40

Tangier disease

Back 40