Campomelic dysplasia with XY sex reversal: Diverse phenotypes resulting from mutations in a single gene
Campomelic dysplasia with XY sex reversal: Diverse phenotypes resulting from mutations in a single gene
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DOI：
10.1111/j.1749-6632.1996.tb56252.x
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发表时间：
1996-01-01
期刊：
影响因子：
--
通讯作者：
Goodfellow, PN
中科院分区：
文献类型：
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作者：
Schafer, AJ;Foster, JW;Goodfellow, PN
Spranger等人首先注意到了臀肢发育不良（CD）中发生的先天性骨骼异常的组合。和Maroteaux等人 *长骨的弯曲和成角是CD最显著的特征，尽管四肢弯曲综合征构成了一组异质性疾病，但肢端发育不良被认为是具有明确临床特征的单一独特实体。CD的主要诊断性放射学特征包括发育不全的肩胛骨、弯曲或成角的股骨和胫骨、垂直狭窄的髂翼和非矿化的胸椎椎弓根（图I）。没有单一的特征是特异性的，但每一个都以高频率出现，没有其他综合征具有这种特征的组合。对"缺肢型" CD患者的描述表明，肢体弯曲不是CD的主要特征。其他放射学特征包括面部发育不全、胸部小、颈椎异常、肋骨纤细、11对肋骨、髋关节脱位、各种骨盆异常和第一掌骨短。常见的临床特征包括小颌畸形、大头畸形、腭裂、鼻梁扁平。耳位低，胫前凹陷，马蹄内翻足，呼吸窘迫。非骨骼异常，如嗅球和嗅束的缺失，脑室扩张和各种心脏和肾脏缺陷也与疾病有关。死亡通常发生在生命的第一周，由于呼吸窘迫;然而，表型的严重程度是可变的，一些患者存活到成年。研究发现，每100.000名新生儿中有0.5 - 1例发生campomelic发育不良。尽管在挪威的18，350名活产婴儿中发现了4例病例，但这表明该综合征可能诊断不足，或者可能在不同人群中存在差异。一个令人惊讶的发现是男性到女性（XU女性）性逆转与Campomelic发育不良的关联。基因型和性表型的比较表明，在46，XY CD患者中，大约四分之三的男性患者，
The combination of congenital skeletal abnormalities that occur in campomelic dysplasia (CD) were first noted by Spranger et al.‘and Maroteaux et al.* Bowing and angulation of the long bones is the most conspicuous feature of CD, and although syndromes with bent limbs constitute a heterogeneous group of disorders,) campomelic dysplasia is recognized as a single distinct entity with defined clinical feature~.~-~ Major diagnostic radiological features of CD include hypoplastic scapulae, bowed or angulated femora and tibiae, vertically narrow iliac wings and nonmineralized thoracic pedicles (FIG. I). No single feature is pathognomonic, but each of these appears with high frequency, and no other syndrome has this combination of features. Descriptions of “acampomelic” CD patients demonstrate that bowing of the limbs is not the cardinal feature of the Additional radiological features are facial hypoplasia, small chest, abnormal cervical vertebrae, slender ribs, eleven pairs of ribs, dislocated hips, a variety of pelvic abnormalities, and short first metacarpal. Common clinical features include micrognathia, macrocephaly, cleft palate, flat nasal bridge. low set ears, pretibial dimples, talipes equinovarus, and respiratory distress. Nonskeletal anomalies such as the absence of olfactory bulbs and tracts, dilatation of cerebral ventricles and a variety of cardiac and renal defects are also associated with the disease. Death usually occurs in the first week of life as a result of respiratory distress; however, the severity of the phenotype is variable and some patients survive into adult life. Studies have found campomelic dysplasia to occur with an incidence of zyxwvutsrqponmlkjihg0.5-1 per 100.000 births,’”.’’although four cases were found in 18,350 live births in Norway, suggesting that the syndrome may be underdiagnosed or may vary between different populations. zyxwvutsrqponml A surprising finding was the association of male-to-female (XU female) sex reversal with campomelic dysplasia. I 3 Comparison of genotype and sexual phenotype has shown that in approximately three-quarters of the 46, XY CD patients, male de-