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Zadik Barak Levin syndrome : ウィキペディア英語版
Zadik–Barak–Levin syndrome
Zadik–Barak–Levin syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development.
==Signs and symptoms==

*anodontia/oligodontia—no teeth or fewer teeth than normal
*cleft palate
*depressed nasal bridge
*dry skin
*ectopic/agenesis/hypoplastic thyroid
*epibulbar dermoid
*frontal bossing
*hypertelorism
*hypothyroidy
*lordosis
*macroglossia
*microcephaly
*micrognatia/retrognatia—small or recessed jaw(s)
*polyhydramnios
*short stature/dwarfism
*sparse/absent scalp hair(generalized)
*squint/paresis of ocular muscles
*umbilical hernia

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Zadik–Barak–Levin syndrome」の詳細全文を読む



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