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Achondroplasia
Relevant markers:
Depressed nasal bridgeFrontal bossingLow nasal bridgeNarrow thoraxNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaProximal diaphyseal-metaphyseal angle wideningRhizomelia/short humerusTrident handMidface/maxillary hypoplasiaParents markers:Macrocephaly
Incidence: 1/10000 — 1/30000 Involved genes:
(gene — definition — chromosome)FGFR3 — Fibroblast growth factor receptor-3 — 4p16.3 Inheritance mode: AD Other online databases: OrphaNet, OMIM, Geneva Foundation References: 1993 Prenat Diagn Case report Read on PubMed 1994 J Med Assoc Thai Case report Read on PubMed 1994 J Ultrasound Med Read on PubMed 1995 Radiology Retrospective observational study of 15 fetuses Read on PubMed 2004 Ultrasound Obstet Gynecol case report (3 cases) Read on PubMed 2009 Prenat Diagn Case series Read on PubMed 2011 Ultrasound Obstet Gynecol Retrospective cohort study Read on PubMed 2012 J Med Case Rep Case report Read on PubMed 2014 Ultrasound Obstet Gynecol Retrospective cohort Read on PubMed Login for more details.