Reduplication of Bones of Lower Extremity

Tibial agenesis, femoral duplication, and caudal midline anomalies

“…This child had cloacal exstrophy and partial duplication of the genitourinary system. Very similar duplications of the limb bones, again with a single tibia, were reported by Nitsche [1931] and Srivastava and Garg [1971], but these cases did not have cloacal or other genitourinary anomalies. Conversely, partial duplications of the cloaca in the absence of limb defects have also been seen [Criado et al, 1992;Telmesani, 1994].…”

Disorganization in mice and humans and its relation to sporadic birth defects

“…Unilaterality may therefore reflect somatic ''second hits'' [cf. Crosby et al, 1993;Levanat et al, Okuboyejo, 1971 M newborn: dup leg, anencephaly Ogden, 1976 Sex indeterminate newborn: omphalocele, cloacal extrophy, IA, lumbosacral MMC, dup L distal femur, single bone L lower leg Petzel and Erickson, 1991 M newborn: stenotic nasal passage, brain atrophy, CHD, tracheomalacia, dup kidney and bladder, dup bowel, dup pelvis, dup leg with femur, two tibia and two feet, dup testes, multiple hemivertabrae, digit-like appendage from abdominal wall Ravitch and Scott, 1953 M 4 years: dup colon, dup bladder, hypoplastic L kidney with hydroureter, dup urethra Robin et al, 1993 Case 1 M: gastroschisis, IA, malformed L leg; retrocardiac kidney; 11 ribs, four lumbar vertebrae; hamartomatous papillae off L hip Case 2 M: MI plantar duplication R foot; duplicated fibula; IA; R kidney hypoplasia Sabry et al, 1995 F newborn: iris colobomata, abnormal facies, CHD two extra upper limbs including clavicles and scapulae, L hemihypertrophy, and scoliosis Srivastava and Garg, 1971 F 8 months: dup R hemipelvis and femur, three bones in lower leg, dup R foot Stein and Bettmann, 1940 F 52 years: dup R humerus, two R radii, three R ulnae, three R hands, bifid C5 vertabra Stevenson et al, 1983 M: absent distal R leg, ''reattached'' on R side of perineum; R foot with four toes; abnormal genitalia; absent R kidney; T8-11 hemivertebrae Taniguchi et al, 1975 F newborn: posteriorly dup femur and foot with MI pattern of toes, absent R kidney, anal atresia Teebi and Elliott, 1996 M newborn: abnormal facies, two small legs and external genetalia projecting from abdominal wall, multiple skin appendages Temtamy andMcKusick, 1978 M newborn: dup L humerus/forearm/hand VanLanger et al, 1994 M: R cleft lip/palate; small mandible, craniofacial ''dysmorphia''; digit-like appendage on chest; hearing loss Verdi et al, 1991 F newborn: cleft lower lip, dup tongue, hamartoma in oral cavity Viljoen and Kidson, 1990 F 11 months: Seven toes L foot with duplicated calcaneus, L leg contracture, L hemipelvis hypoplastic, multiple skin papillae Wainwright and Viljoen, 1993 Case 1 1996] or epigenetic or stochastic effects on protein function. The difficulty in both humans and mice is obtaining evidence for the nature of these ''second hits'' [cf.…”