title: Oral-facial-digital syndrome. A family case report.
abstract: A familial case report of oral-facial-digital I syndrome affecting three generations is presented. The pedigree analysis substantiates that this syndrome is lethal for the male. The abnormal physical findings in the affected persons were predominantly associated with the oral structures. The need for early identification and diagnosis is imperative in the management of the affected females. This approach assists in the control of serious dental complications and allows for a professional overview of the growth and development of facial form. Also, supportive counseling acts as an aid in the control of emotional disturbances that can be associated with physical form and function. Since this syndrome is transmitted as an X-linked dominant affecting females, genetic counseling becomes a necessity in the care and management of the family and affected patients.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000539:Alveolar Process / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008046:Lip / Q000002:abnormalities; D008310:Malocclusion / Q000209:etiology; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010159:Palate / Q000002:abnormalities; D010375:Pedigree; D014059:Tongue / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000209:etiology; D014786:Vision Disorders / Q000209:etiology