Günthard J, Fliegel C, Ohnacker H, Rutishauser M, Bühler E
Department of Cardiology, University Children's Hospital of Basel, Switzerland.
Clin Genet. 1995 Jul;48(1):35-40. doi: 10.1111/j.1399-0004.1995.tb04051.x.
A rare instance of double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia is presented. Despite midface hypoplasia, thorax deformity and lung hypoplasia, the child survived the neonatal period. Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year.
本文报告了一例先天性脊柱骨骺发育不良和软骨发育不全双重杂合子的罕见病例。尽管患儿存在面中部发育不全、胸廓畸形和肺发育不全，但仍度过了新生儿期。出生时就已存在的严重肺动脉高压导致右心衰竭，并于1岁时死亡。
