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常染色体显性和散发性桡尺骨融合

Autosomal dominant and sporadic radio-ulnar synostosis.

作者信息

Rizzo R, Pavone V, Corsello G, Sorge G, Neri G, Opitz J M

机构信息

Divisione di Neurologia Pediatrica, Università di Catania, Italia.

出版信息

Am J Med Genet. 1997 Jan 20;68(2):127-34.

PMID:9028445
Abstract

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.

摘要

我们报告了7例先天性桡尺骨融合(RUS)病例。其中5例在同一家族中发现,2例为散发性。6例患者的融合为双侧性,且均累及桡骨和尺骨近端。在家族性病例中,该异常以常染色体显性特征遗传,两名患者伴有杜波依斯征以及第4和第5掌骨相对短小,另一名患者伴有第2掌骨相对短小,还有一名患者伴有第5指所有指骨相对短小。这些观察结果提示尺骨发育区域受累。RUS在西西里人群中似乎并不罕见。

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