身材高大、小头畸形、肌张力减退、骨龄超前以及耳下异常褶皱。
Tall stature, microcephaly, hypotonia, advanced bone age, and unusual infra-auricular creases.
作者信息
Stratton R F
机构信息
Department of Pediatrics, University of Texas Health Science Center at San Antonio 78284-7809, USA.
出版信息
Am J Med Genet. 1998 Jan 23;75(3):261-2.
PMID:9475593
Abstract
The patient is a 16-month-old girl with tall stature, hypotonia, unusual facial appearance, acquired microcephaly, advanced bone age without apparent sexual precocity or acromegaly, and symmetric horizontal creases below the earlobes. Her combination of anomalies appears to constitute a previously unreported syndrome.
摘要
该患者为一名16个月大的女孩，身材高大，肌张力减退，面部外观异常，后天小头畸形，骨龄超前，无明显性早熟或肢端肥大症，耳垂下方有对称的水平皱纹。她的这些异常表现组合似乎构成了一种此前未报道过的综合征。
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