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Femoral hypoplasia/unusual facies syndrome
Relevant markers:
Absent femurAbsent kidneyBowed femurFractured femurHypoplastic femur/sLong philtrumLow set ear/sMandibular asymmetryMaternal diabetes mellitusMicrognathia/retrognathiaRhizomelia/short femurRhizomelia/short humerusShort fibulaShort nose with a broad tipTalipesThin upper lipUnilateral hypoplasia/atrophy of cerebellumParents markers:BrainCleft in hard palateCleft lipCleft palateFootForeheadRenal agenesisSpinal cordUrinary
Inheritance mode: Sporadic (new mutation) Other online databases: OrphaNet, OMIM Links: www.sonoworld.com, www.sonoworld.com References: 2007 Ultrasound Obstet Gynecol Review Read on PubMed 2010 Am J Med Genet A Case series (3 cases) and literature review Read on PubMed 2013 Birth Defects Res A Clin Mol Teratol 2 cases Read on PubMed 2014 J Clin Ultrasound Case report Read on PubMed Login for more details.