颅面
颅面畸形
短乳
腭咽闭合不全
医学
皮肤病科
解剖
儿科
精神科
身材矮小
作者
Lakshmi Kollara,Samantha L. Reiss,Sreekara Singam,Brian Kellogg
标识
DOI:10.1177/10556656221141235
摘要
Aarskog–Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.
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