Roberts syndrome with normal cell division.
Roberts syndrome with normal cell division.
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罗伯茨综合征，细胞分裂正常。
DOI：
10.1002/ajmg.1320380106
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
Sisken,JE
中科院分区：
文献类型：
--
作者：
Keppen,LD;Gollin,SM;Seibert,JJ;Sisken,JE
Roberts-SC短肢畸形综合征（RS）是一种常染色体隐性遗传疾病，具有对称性肢体缺陷、颅面畸形、产前和产后生长迟缓和智力低下。据报道，RS患者的许多染色体的异染色质过早分离，细胞分裂周期异常。我们报告一个婴儿的临床和影像学表现类似RS，但谁缺乏RS报告的细胞遗传学和细胞分裂异常。该患者可能代表RS的变体或新的综合征。
Roberts‐SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre‐and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell‐division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.