The Syndromes of Cleft Lip, Cleft Palate and Lobsterclaw Deformities of Hands and Feet

Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: The Zlotogora‐Ogur syndrome

“…The clinical signs of the present patients, taken as a whole, are clearly distinct from those of the known conditions occurring with ectrodactyly [Rudiger et al, 1970;Walker and Clodius, 1963;Wiegemann and Walker, 1970;Temtamy and McKusick, 1978;RichieriCosta et al, 19861, and from those of other cleftingectodermal dysplasia syndromes with variable limb involvement [Rosselli and Gulienetti, 1961;Rapp and Hodgkin, 1968;Fara, 1971;Hollister et al, 1973;Hay and Wells, 1976;Bowen and Armstrong, 1976;Bonafb et al, 1979;Allanson and McGillivray, 1985;Martinez et al, 19871. The only cases similar to the ones here described were reported by Zlotogora et al [1987] and Ogur and Yuksel [1988], each reporting on a consanguineous family. The Table I).…”

Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter

“…Ectrodactyly is a deformity in which there is congenital absence of one or more of the second, third, or fourth rays. [10] Walker and Coldius [12] believe that there is a centripetal suppression of the developing hand plate. In the simplest form there is a cleft with no missing tissue.…”

“…Further ulnar suppression results in an essentially monodactylous hand and finally, suppression of all digits. [12] Tibial aplasia is of a heterogeneous aetiology, though the majority of the reports are sporadic cases, but At the age of 6 months Brown-procedure was performed on the left side, albeit in a modified way, i.e., a shortening osteotomy of the femur was considered in light of complete absence of the extensor apparatus. Therefore, centralization of the proximal fibula onto the femoral notch (we used iliotibial notch as a cruciate ligament) a tunnel was drilled from the femoral notch towards the medial femoral condyle aiming to fix the band.…”

Absent meibomian glands: A marker for EEC syndrome

“…An incidence of 1 in 90 000 has been quoted in Denmark. 21 The earliest reference to ectrodactyly in the literature appears to have been in 1770. 21 Its first association with cleft lip and palate was recorded in 1804, with other reports by Cockayne22 in 1936 and Walker and Clodius21 in 1963, both of which stressed the common accompaniment of lacrimal tract abnormalities.…”

“…21 The earliest reference to ectrodactyly in the literature appears to have been in 1770. 21 Its first association with cleft lip and palate was recorded in 1804, with other reports by Cockayne22 in 1936 and Walker and Clodius21 in 1963, both of which stressed the common accompaniment of lacrimal tract abnormalities. The rare combination of ectro dactyly, ectodermal dysplasia and cleft lip and palate was not described until 1970.1 To date fewer than 180 cases have been reported in the literature.…”