维德曼-劳滕施特劳赫综合征或新生儿早老综合征：1例尿道下裂患者的报告。
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias.
作者信息
Tunc T, Bulbul A, Erdinc K, Sarici S U, Gul D, Ozcan O
机构信息
Gulhane Military Medical Academy, School of Medicine, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
出版信息
Genet Couns. 2009;20(4):367-71.
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias: Wiedemann-Rautenstrauch syndrome is known as a neonatal progeroid syndrome, with only few published case reports. The syndrome is characterized by progeroid appearance (triangular old-looking face with relatively large skull, prominent veins especially of the scalp, sparse scalp hair, and large anterior fontanelle), decreased subcutaneous fat (giving the clinical appearance of prominent veins and muscles), hypotrichosis, macrocephaly, and natal teeth. We report a new additional patient with a new feature of the hypospadias, not previously described, to our knowledge.
维德曼-劳滕施特劳赫或新生儿早老综合征：1例尿道下裂患者的报告：维德曼-劳滕施特劳赫综合征是一种新生儿早老综合征，仅有少数病例报告发表。该综合征的特征为早老外观（三角形的老年面容，颅骨相对较大，尤其是头皮静脉突出，头皮毛发稀疏，前囟大）、皮下脂肪减少（导致静脉和肌肉突出的临床表现）、毛发稀少、巨头畸形和 natal teeth（此处natal teeth未明确中文释义，可能是“诞生牙”之类的特定医学术语，暂按英文保留）。据我们所知，我们报告了1例有尿道下裂这一此前未描述的新特征的新患者。
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