hypoparathyrodism-retardation-dysmorphism syndrome Sanjad-Skati Syndrome

del22q11

10p

囟門延遲關閉

頭大

低血鈣

管狀骨骨質增厚

正常智能

身材矮小

頭小

智障

抽搐

身材矮小

智障

抽搐 

    低張性(85%)

●新生兒低副甲狀腺功

    能

●低副甲狀腺功能

    (58.3%)

●cortical thickening

    & medullay stenosis of 

    long bones.(96.2%)

●眼異常(70.8%):

microphthalmia,corneal 

opacity, myopia/hyperopia,

optic atrophy, macular 

clouding, apilledem/

pseudopapille dema, calcium

deposition in cornea and 

retina and tortuous retinal 

vessels.

●產後發育遲緩(92.3%)

    (AVKCS)

●手腳短

●低血鈣伴隨全身性

    低張性抽搐 

●新生兒低副甲狀腺

   功能

●cortical thickening &

    medullay stenosis

●absent diploic space in 

    the skull

●智障

●Arab countries

●抽搐.

●顱顏異常：耳位低、塌鼻、樑、

    鉤鼻、長人中、上唇薄、小頷、耳翼

    大又塌

●宮內生長遲滯

●身材矮

●智障

●小頭

●貧血

●eosinophilia

●persistent eutropenia

   T-cell fraction with the 

   consequent low helper/

   suppressor ratio, reduced 

   T-cell response to mitogens