Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns.

A review of the autopsy records of the Department of Pathology of Nagasaki University and the Department of Geneticopathology of Hiroshima University from 1944 through 1982 revealed that during this period there were 11,050 cases of fetuses and newborns, including 432 cases with craniofacial and oral malformations and 22 cases with amniogenous malformations. Among the cranial malformations, there were 202 (46.8%) anencephaly cases, 38 (8.8%) holoprosencephaly, 28 (6.48%) hydrocephaly, 27 (6.25%) meningoencephalocele, and 13 other cranial malformations (seven microcephaly and two each of macrocephaly, dolichocephaly, and iniencephaly). Among the oral malformations, there were 25 (5.78%) cleft lip cases, 23 (5.32%) cleft palate, and 76 (17.6%) cleft lip and palate. Among the facial malformations, there were 12 (2.78%) anomicrophthalmia cases, 37 (8.56%) ear malformations, 15 (3.47%) micrognathia, and 8 (1.85%) nose malformations. One cranial malformation was found that was complicated with anencephaly and holoprosencephaly. Of 307 cranial malformations, 38 (12.4%) were complicated with oral malformations and 4 (4.6%) with facial malformations. Among the 124 cases of oral malformations, 38 (30.6%) were complicated with cranial malformations. The complicating cranial malformations were anencephaly in 16 cases, holoprosencephaly in seven, hydrocephaly in six, meningoencephalocele in seven, other cranial malformations in two, and with facial malformations in 19 cases. Among the 72 cases of facial malformations, 14 were complicated with cranial malformations and 19 with oral malformations. Four cases showed three or more cranial, facial, and/or oral malformations at the same time. Recently, experimental embryological studies have shown that the neural crest cell-derived mesectoderm participates largely in the morphogenesis of the face and the cardiovascular system. It may be said that neural crest cells are deeply involved in the teratogenesis.