Hack W W, ten Houten R, Breslau-Suderius E J, Halley D J
Medisch Centrum Alkmaar, Afd. Kindergeneeskunde.
Ned Tijdschr Geneeskd. 1997 Oct 18;141(42):2025-8.
Four children aged 2.5 years, 15.7 and 7 months, including a pair of twins, after birth displayed hypotonia which necessitated tube feeding. Other features were a narrow forehead and a thin triangular upper lip, but these abnormalities were not conspicuous. An extensive supplementary examination for cerebral and muscular disorders initially failed to produce a diagnosis. It was only when the Prader-Willi syndrome was suspected and a corresponding abnormality on chromosome 15 was looked for that this diagnosis could be made. Early diagnosis of this syndrome will avoid further invasive diagnostic procedures and make early treatment possible.
四个年龄分别为2.5岁、15.7个月和7个月的儿童，其中包括一对双胞胎，出生后表现出肌张力减退，需要通过管饲进食。其他特征包括额头狭窄和上唇薄呈三角形，但这些异常并不明显。最初对脑部和肌肉疾病进行的广泛补充检查未能得出诊断结果。直到怀疑是普拉德-威利综合征并寻找15号染色体上的相应异常时，才得以做出该诊断。该综合征的早期诊断将避免进一步的侵入性诊断程序，并使早期治疗成为可能。
