Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.
Lipson
A H
AH
Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, New South Wales, Australia.
Kozlowski
K
K
Barylak
A
A
Marsden
W
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D009264:Nails, Malformed; D011630:Pubic Bone / Q000002:abnormalities*