Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.
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迟发性脊柱骨骺发育不良伴进行性关节病：阿拉伯人中经常诊断出的一种罕见疾病。
DOI：
10.1136/jmg.23.2.189-a
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发表时间：
1986
影响因子：
4
通讯作者：
S. A. al Awadi
中科院分区：
文献类型：
--
作者：
A. Teebi;S. A. al Awadi
1983年6月24日，一名健康状况良好的24岁初产妇生下一名死产男婴，伴有多发性畸形，并出现波特综合征。妊娠36周后出生体重1775g，1例妊娠合并羊水过多。尸检可见双侧肾发育不全、无输尿管(有膀胱)、无阴茎、肛门闭锁和持续性动脉干。由于头骨坍塌，头盖骨没有打开。在此之后，1983年11月，一个四个月的浸渍胎儿需要D和C引产，10个月后她流产失败。由于早期胎儿丢失，加上之前的畸形婴儿，对她和她的丈夫进行了核型分析。她是一位女性，有两个明显平衡的易位：46，XX，t(2；13)(p21；q32)和t(5；14)(q33；q32)。这表明生育失败的风险非常高。她的母亲患有一种平衡易位，曾两次自然流产，还有两个儿子和这个女儿。其中一个儿子的妻子目前怀孕13周，被发现核型正常。家族病史显示，一位患有唐氏综合症的表亲患有唐氏综合症，但没有可用的核型。这一案例表明，与多种缺陷相关的围产期致死性肾脏疾病的复发风险可能不仅与Bankier等人提出的常染色体隐性基因有关，还可能与染色体原因有关。因此，对这类婴儿进行核型分析是很重要的，因为这会对其他家庭成员产生高风险。爱德华国王妇女纪念医院的Athel Hockey、琼·克劳斯特和伊恩·沃波尔*遗传咨询诊所；以及*西澳大利亚州苏比亚科玛格丽特公主儿童医院的大学儿童保健部6008。
On 24.6.83, a 24 year old primipara in good health gave birth to a stillborn male fetus with multiple defects and the appearance of Potter's syndrome. Birth weight was 1775 g after a gestation of 36 weeks and a pregnancy complicated by polyhydramnios. At necropsy there was bilateral renal agenesis, absent ureters (bladder present), absent penis, imperforate anus, and a persistent truncus arteriosus. Owing to collapse of the skull, the cranium was not opened. Following this, in November 1983, a four month macerated fetus required induction and delivery by D and C, and ten months later she delivered a missed abortion. Because of this early fetal loss in conjunction with the previous malformed infant a karyotype was done on her and her husband. She showed a female karyotype with two apparently balanced translocations: 46,XX,t(2;13)(p21;q32) and t(5;14)(q33;q32). This indicated a very 'high' risk of reproductive failure. Her mother had one of the balanced translocations and had had two spontaneous abortions, as well as two sons and this daughter. One son, whose wife is currently 13 weeks pregnant, was found to have a normal karyotype. The family history showed a maternal female cousin who had Down's syndrome with no karyotype available. This case demonstrates that recurrence risks for perinatally lethal renal disease in association with multiple defects may not only relate to autosomal recessive genes, as suggested by Bankier et al, but may also show a chromosomal cause. It is therefore important to karyotype such infants because of the consequent high risk implications to other family members. ATHEL HOCKEY, JUNE CROWHURST, AND IAN WALPOLE* Genetic Counselling Clinic, King Edward Memorial Hospital for Women; and *University Department of Child Health, Princess Margaret Hospital for Children, Subiaco, Western Australia 6008.