Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8 / 口腔疾病防治

@#Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by activating the mitogen-activated protein kinase (MAPK) signaling pathway and affect the establishment of mandibular arch polarity and the development of craniofacial symmetry by regulating the expression of target genes. Cleft lip with or without cleft palate, ciliopathies, macrostomia and agnathia are four developmental malformations involving the craniofacial region that seriously affect the quality of life of patients. The abnormal FGF8 signal caused by gene mutation, abnormal protein conformation or expression is closely related to the occurrence of craniofacial malformations, but the molecular mechanism and signaling pathway underlying these malformations have not been fully elucidated. Craniofacial development is a complex process mediated by a variety of signaling molecules. In the future, the role of various signaling molecules in craniofacial development and malformations need to be explored to provide a new perspective and vision for the prevention and treatment of these craniofacial malformations.

Otocephaly (Agnathia)-Situs inversus complex with bilateral absence of mandibular nerves.

Otocephaly is a rare lethal neurocristopathy of first branchial arch, characterized by agnathia (agenesis of mandible), ventro-medial displacement and midline fusion of external ears (synotia), microstomia (small mouth) and aglossia (absence of tongue) or microglossia (small tongue). This anomaly is a consequence of failure of migration of neural crest cells from hind brain which contributes to the development of maxillary and mandibular prominences of the first arch. A female fetus of 28weeks gestation, spontaneously aborted, was received for autopsy. On external examination, the fetus exhibited ventrally placed malformed ears in the neck region, agnathia, microstomia and microglossia. Internal examination revealed situs inversus totalis, atrial septal defect and bilateral absence of mandibular nerves. Our case is unique, and here rendered for publication, due to association of otocephaly with situs inversus totalis in the absence of holoprosencephaly. We discuss current perspectives, literature review and molecular mechanisms implicated in otocephaly complex patterning.

Anesthetic Management during an Ex Utero Intrapartum Treatment (EXIT) Procedure of the Agnathic Fetus : A case report / 대한마취과학회지

We report our experience of the anesthetic management of an ex utero intrapartum treatment (EXIT) procedure that was performed on a fetus with a mandible anomaly (agnathia) for airway management. The EXIT procedure is a method for maintaining the feto-placental circulation during a cesarean section using deep inhalation anesthesia. In the EXIT procedure, the anesthetic goal is the profound relaxation of the uterus to maintain the feto-placental circulation. High dose inhalation agents are used maintain the level of uterine relaxation. Anesthesia was induced with rapid sequence intubation and maintained with 2 vol% isoflurane and nitrous in oxygen (50:50) combined with intermittent boluses of fentanyl and atracurium. The fetus was not given any drugs other than those as a result of placental transfer and was monitored with pulse oximeter. The mother and fetus were maintained hemodynamically stable with a preserved feto-placental circulation. After delivery, the uterine tone improved soon after discontinuing the isoflurane, and the pitocin infusion was begun. There were no signs of uterine atony in the postoperative period.

Prenatal Sonographic Diagnosis of an Isolated Agnathia: A Case Report / 대한산부인과학회잡지

Agnathia is a rare malformation derived from the first brachial arch malformation. Most reported cases of agnathia have been associated with other lethal anomalies. However, the infant reported here did not have any specific anomaly other than agnathia and aglossia. We present a case of isolated agnathia which was diagnosed by prenatal ultrasonography with a brief review of literatures.