单词 | shprintzen-goldberg omphalocele syndrome |
释义 | Shprintzen-Goldberg omphalocele syndromeShprintzen-Goldberg omphalocele syndromeAn extremely rare (5 cases in the world literature) autosomal dominant condition (OMIM:182210) characterised by mild facial dysmorphia, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia. |
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