Toutain A, Sirinelli D, Paillet C, Bonnard C, Body G, Maroteaux P, Moraine C
Unité de Génétique, Hôpital Bretonneau, CHU de Tours.
Ann Pediatr (Paris). 1991 Jan;38(1):37-45.
A familial observation of Reinhardt-Pfeiffer type mesomelic chondrodysplasia spanning three generations is reported. This case clearly shows that expression of the disease can vary widely within a given family. One member affected as a fetus had a severe form suggesting Langer mesomelic dwarfism syndrome, whereas his mother was free of clinical symptoms and his maternal aunt had a typical form of Reinhardt-Pfeiffer syndrome. Clinical manifestations in the other affected family members were perfectly consistent with dyschondrosteosis syndrome. The very broad spectrum of clinical patterns in this family suggests that there may be connections between the various types of mesomelic dysplasia. Establishing clear-cut distinctions between these entities, although useful in practice, may not accurately reflect molecular anomalies. Furthermore, the family member affected as a fetus also had Turner syndrome, which may have contributed to the severity of his condition. The possibility of identifying severe mesomelic dysplasias antenatally by ultrasonography should be pointed out.
报告了一个跨越三代的莱因哈特 - 普法伊费尔型中肢短骨发育不良的家族观察病例。该病例清楚地表明，在一个特定家族中，疾病的表现可能差异很大。一名胎儿期受影响的成员患有严重形式，提示朗格中肢侏儒综合征，而他的母亲没有临床症状，他的姨妈患有典型的莱因哈特 - 普法伊费尔综合征。其他受影响家庭成员的临床表现与软骨发育不全综合征完全一致。这个家族中非常广泛的临床模式谱表明，各种类型的中肢发育不良之间可能存在联系。在这些实体之间建立明确的区分，虽然在实践中有用，但可能无法准确反映分子异常。此外，胎儿期受影响的家庭成员还患有特纳综合征，这可能导致了他病情的严重程度。应指出通过超声产前识别严重中肢发育不良的可能性。
