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Carpenter syndrome
Relevant markers:
Bowed femurBrachydactyly of toesDouble outlet right ventricle (DORV)MacrosomiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPreaxial polydactyly of hand/sParents markers:Abnormal head shapeCraniosynostosisHeartPolydactyly of foot/feetPolydactyly of hand/sSyndactyly of fingersSyndactyly of toes
Involved genes:
(gene — definition — chromosome)MEGF8 — multipleepidermal-growth-factor-like-domains 8, RAB23 — rat brain 23 Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 2014 Am J Med Genet A Case report Read on PubMed 2014 Am J Med Genet A Case report Read on PubMed Login for more details.