Publication | Closed Access
Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
74
Citations
4
References
1982
Year
Down SyndromeFamily MedicineDevelopmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsAffected MembersDegenerative DiseaseGenetic CounselingGenetic HeterogeneityNeurologyAnatomyAutosomal Dominant FormCraniofacial SurgeryNeuropathologyMedicineAbnormal Development
A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.
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