Bilateral Aplasia of the Tibia, Polydactyly and Absent Thumb in Father and Daughter

Abstract

REBER, M. (1968): Un syndrome osseux per commun associant une h#{233}ptodactylie et une aplasie des tibias.

Bilateral congenital deficiency of tibia: A case report

“…Dissection of amputated specimens has demonstrated persistence of embryonic vascular pattern in both tibial and fibular deficiencies [17,18]. Association of tibial deficiencies and other congenital anomalies observed in family members suggest that tibial deficiency may have a genetic transmission [5,7,13,14,19].…”

“…The most common abnormalities are coalition including subtalar coalition [10][11][12]17,18,21]. The ankle articu-lation may be abnormal with either a wide diastasis or a sagitally oriented joint [4].…”

“…The ankle articu-lation may be abnormal with either a wide diastasis or a sagitally oriented joint [4]. Muscle, tendon and vascular development are often quite abnormal [11,17,18]. These abnormalities are not mentioned in any of the classification but they are important and have a clinical impact on selection of treatment and prognosis.…”

Tibial hemimelia‐cleft lip/palate in a Brazilan child born to consanguineous parents

“…There are four known types of autosomal dominant tibial hemimelia syndromes: 1) The Werner syndrome [Werner, 19 15;Reber, 1967Reber, / 1968Eaton and McKusick, 1969;Pashayan et al, 1971;Yujnovsky et al, 1974;Lamb et al, 1983;Richieri-Costa et al, 1987al; 2) the tibial hemimelia-ectrodactyly syndrome [ Majewski et al, 1985;Richieri-Costa et al, 1987bl; 3) the tibial hemimelia-diplopodia syndrome [Laurin et al, 1964;Sandrow et al, 1970;Pfeiffer and Roeskau, 19711;and 4) the tibial hemimeliamicromelia-trigonomacrocephaly syndrome [ Wiedemann and Opitz, 19831. In the other two types of tibial hemimelia, autosomal dominant inheritance is the most likely pattern of transmission: 5 ) the tibial hemimelia-normal upper limb syndrome [Clark, 19751, and 6 ) the tibial hemimelia-radial agenesis syndrome [Tenitamy and McKusick, 19781.…”

Autosomal dominant tibial hemimelia–polysyndactyly‐triphalangeal thumbs syndrome: Report of a Brazilian family

“…Tibial hemimelia has been described as a teratologic disruption [Lenz and Knapp, 19621; it has been seen in chromosomal aberrations [Christianson and Nelson, 19841 and in kinships or sibships with an autosomal dominant or recessive pattern of inheritance [Carraro, 1931;Takahashi et al, 1968;Eaton and McKusick, 1969;Sandrow et al, 1970;Fried et al, 1977;Temtamy and McKusick, 1978;Wiedemann and Opitz, 1983;Majewski et al, 1985;Richieri-Costa, 1987;Richieri-Costa, 1988;Richieri-Costa et al, 1987a,bl. Few cases of the autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome have been reported previously [Melde, 1892;Werner, 1915;Reber, 1967Reber, /1968Eaton and McKusick, 1969;Pashayan et al, 1971;Yujnovsky et al, 1974;Lamb et al, 19831. Here we report on this syndrome in 3 members of a Brazilian family. Clinical and genetic aspects of the tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome are discussed.…”