Brachymelia
National Institutes of Health
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PurposeWe report a rare case of Pallister-Killian syndrome diagnosed prenatally with increased nuchal translucency during…
In this report, two cases of brachymelia in related neonatal cats are described. The malformations are described in view of…
Robinow syndrome, originally described in 1969, consists of mesomelic brachymelia, short stature, genital hypoplasia and…
We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific…
We report on a 17 month-old boy with Robinow' syndrome characterized by mild dwarfism, brachymelia, frontal bossing…
We report on a boy with mesomelic dysplasia. The mesomelic brachymelia, especially of the arms, was associated with delayed…
We report an unusual form of chondrodystrophy identified in a female infant at birth. She was severely delayed developmentally…
Three families are presented in which four children have mesomelic brachymelia, hemivertebrae, short digits, and genital…