SHORT RIB-POLYDACTYLY SYNDROME - A SINGLE OR HETEROGENEOUS ENTITY - A RE-EVALUATION PROMPTED BY 4 NEW CASES
SHORT RIB-POLYDACTYLY SYNDROME - A SINGLE OR HETEROGENEOUS ENTITY - A RE-EVALUATION PROMPTED BY 4 NEW CASES
复制标题
DOI：
10.1136/jmg.22.1.46
复制
发表时间：
1985-01-01
影响因子：
4
通讯作者：
JENKINS, T
中科院分区：
文献类型：
--
作者：
BERNSTEIN, R;ISDALE, J;JENKINS, T
本文报告来自3个非血缘家庭的4例致死性短肋骨多指综合征(SRPS)。所有4例的放射学特征都相似，最符合III型SRPS(Verma-Naumoff综合征)，但在外部和系统异常方面有许多不同。SRPS的三种主要形式所表现出的显著的独特特征的相当大的重叠提示单个基因突变具有不同的表达能力，特别是对于I型和III型，可能与不同的突变等位基因和继发的表型宫内修饰有关。4例均表现为性发育异常。尽管4例患儿均有睾丸分化，2例患儿的染色体核型均为46，XY，但仍有2例为女性表型，2例生殖器不明确。高危妊娠在妊娠26周时确诊为SRPS。
Four cases of lethal short rib-polydactyly syndrome (SRPS) from 3 non-consanguineous families are described. Radiological features were similar in all 4 cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The considerable overlap of supposedly distinctive features displayed by the 3 main forms of SRPS is suggestive of a single locus mutation with variable expressivity, particularly for types I and III, possibly related to different mutant alleles and secondary intrauterine modification of the phenotype. All 4 cases showed anomalous sexual development. In spite of testicular differentiation in all 4 and a 46,XY karyotype in the 2 on whom chromosome studies were done, 2 infants were phenotypic females and 2 had ambiguous genitalia. A definitive diagnosis of SRPS was made at 26 wk gestation in a pregnancy at risk.