释义 |
DictionarySeelearning disabilityShprintzen-Goldberg omphalocele syndrome
Shprintzen-Goldberg omphalocele syndrome An 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. |