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Severe lower limb malformation associated with other deformities and death in infancy in two brothers.

机译:严重的下肢畸形与其他畸形和婴儿兄弟中的死亡相关。

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摘要

Two brothers with severe and rare lower limb malformations but normal upper limbs are described. Both brothers had glans hypospadias and they died in early infancy. In the first brother the limb malformation was a severe deformity of the right foot which was split and of rockerbottom shape with oligosyndactyly. In the second brother the right limb below the knee was more severely deformed while only the toes were involved in the left limb. Details of the clinical and pathological findings are described. The most likely mode of inheritance of this rare syndrome is autosomal recessive or X-linked recessive with variable expressivity.
机译:描述了两个兄弟都有严重且罕见的下肢畸形,但上肢正常。他们的两个兄弟都有龟头尿道下裂,并在婴儿早期死亡。在第一个兄弟中,肢体畸形是右脚严重畸形,已裂开,呈弓形,伴有少突。在第二个兄弟中,膝盖以下的右肢严重变形,而左脚只累及脚趾。详细描述了临床和病理结果。这种罕见综合征的最可能的遗传方式是常染色体隐性遗传或具有可变表达能力的X连锁隐性遗传。

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