title: Embryology of familial (non-syndromic) brachydactyly of the hand.
abstract: Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently overlapping, yet they are caused by different gene mutations and the ring finger is frequently relatively preserved. We review the embryology of isolated familial brachydactyly with special attention to these two features.
authors.affiliation: Department of Surgery, King Saud University, Riyadh, Saudi Arabia moqattan@hotmail.com.
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Qattan
mesh_terms: D059327:Brachydactyly / Q000145:classification / Q000000981:diagnostic imaging / Q000196:embryology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology*; D005865:Gestational Age; D055428:Growth Differentiation Factor 5 / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000145:classification / Q000000981:diagnostic imaging / Q000196:embryology* / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D014157:Transcription Factors / Q000235:genetics
chemical_list: C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors
keywords: Embryology; brachydactyly; congenital; hand