Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus.
Eight pedigrees of patients with Marfan syndrome are presented. In addition, four pedigrees of patients with conditions sometimes showing a marfanoid body habitus are described: Wagner-Stickler syndrome, multiple endocrine neoplasia type III, Ehlers-Danlos syndrome type VIA, and congenital contractural arachnodactyly type II. Emphasis is placed on the importance of genetic information in the differential diagnosis and management of patients and family members by the ophthalmologist.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000175:diagnosis*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis; D004700:Endocrine System Diseases / Q000150:complications; D005128:Eye Diseases / Q000150:complications; D005260:Female; D005817:Genetic Counseling; D006331:Heart Diseases / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007906:Lens Subluxation / Q000175:diagnosis*; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications; D010375:Pedigree; D013577:Syndrome