Cleft lips and palate

SUMOl haploinsufficiency has been linlced to a developmental defect Based on the finding that a patient with a cleft lip and palate had a mutation in the SUMOl gene locus, a mouse model was generated that had reduced SUMOl expression. Increased frequency for a cleft palate or oblique facial cleft was observed in the transgenic mice, suggesting that SUMO haploinsufficiency can lead to developmental defects. 

Smith T.D., Siegel M.I., Mooney M.P., Burdi A.R., et al. (1996). Vomeronasal organ growth and development in normal, and cleft-lip and palate, human fetuses. Cleft Palate-Craniofac J 33, 385-394. 

Millicovsky, G. and Johnston, M.C. (1981). Maternal hyperoxia greatly reduces the incidence of phenytoin-induced cleft lip and palate in A/J mice. Science 212 671-672. 

Chance almost certainly explains the difference in the occurrence of the neural tube defects, as it explains many other results in epidemiology. For instance, many early studies of possible effects from exposures to herbicides reported increases in cleft lip and cleft palate (none of which was considered significant)43 among children born to exposed parents. In contrast, there were five cases of cleft lip and cleft palate among the children bom to the Comparisons and none in the children born to Ranch Hands. No one would argue that Agent Orange prevents cleft lip and palate based on this observation. 

Studies of reproductive and teratogenic effects of OPPs on humans are few. Gordon et al. (1981) found stronger correlations of cleft lip and palate malformations for insecticides and/or herbicides than for all other agrichemicals combined. The post mortem examination of women s ovaries following acute intoxication revealed adverse ovarian effects from parathion and both infertility and menstrual disturbances were observed in female applicators of OPPs. Also, women from fruit growing areas exposed to OPPs experienced earlier menopause, infertility and other functional irregularities—e.g., in the liver and nervous system and in bile production. 

Immeyer F. Lippen- Kiefer- Gaumen-spalten bei Thalidomid-geschadigten Kindern. [Cleft lip and palate in thalidomide-induced embryopathies.] Acta Genet Med Gemellol (Roma) 1967 16(3) 244-74. 

Isolated cleft lip and palate is a multifactorial trait. The recurrence risk of isolated cleft lip and palate is... 

Mooney, M.P., Siegel, M.L, Kimes, K.R., Todhunter, J.S. Smith, T.D. 1994. Anterior paraseptal cartilage development in normal and cleft lip and palate human fetal specimens. Cleft Palate-Craniofac. J., 31, 239-245. 

Table XXXI Major Faults in Complex Pathways Result in Cleft Lip and Palate...

Kalaaji, A. Lilja, J. Blander, A. Friede, FI. Tibia as donor site for alveolar bone grafting in patients with cleft lip and palate long-term experience. Scand. J. Plast. Recon-str. Suig. Hand Surg. 2001, 35, 35 2. 

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