Sheffield L J, Reiss J A, Strohm K, Gilding M
Medical Genetics and Epidemiology Unit, Adelaide Children's Hospital, Inc., South Australia.
Am J Med Genet. 1987 Sep;28(1):25-36. doi: 10.1002/ajmg.1320280105.
A genetic follow-up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23-year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.
对南澳大利亚23年间被诊断为患有皮埃尔·罗宾综合征的64名婴儿进行了一项基因随访研究。联系了患者及其家属，获取了家族病史，并进行了体格检查，目的是检测异质性并确定复发风险。在16名已故患者中，详细的尸检报告得出结论，12名（70%）患有潜在综合征。47名在世患者中有12名（26%）被诊断患有潜在综合征，其中最常见的是斯-利综合征（6例）。在大多数情况下，在新生儿期就可以将综合征性病例与非综合征性病例区分开来。在34名没有潜在综合征的患者中，对妊娠和出生细节的研究未发现任何独特的病因因素。这组非综合征性皮埃尔·罗宾综合征患者的同胞中没有复发情况。
