Beals-Hecht syndrome.
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature.
Jones
Jennifer L
JL
Department of Pediatrics, Mercer University School of Medicine, Medical Center of Central Georgia, Macon 31208, USA.
Lane
Joshua E
JE
Logan
James J
JJ
Vanegas
Maria E
ME
D002648:Child; D003240:Connective Tissue Diseases / Q000175:diagnosis* / Q000235:genetics; D003286:Contracture / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D000071837:Fibrillins; D005799:Genes, Dominant; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008840:Microfilament Proteins / Q000172:deficiency; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics; D013008:Somatotypes; D013577:Syndrome
D000071837:Fibrillins; D008840:Microfilament Proteins