-
The American Journal of Case Reports May 2023BACKGROUND Agnathia-otocephaly complex (AOC) is a rare congenital malformation due to a first-branch arch disorder and has been considered lethal. However, milder...
BACKGROUND Agnathia-otocephaly complex (AOC) is a rare congenital malformation due to a first-branch arch disorder and has been considered lethal. However, milder variants of the isolated type of AOC have been reported as nonlethal. The ex-utero intrapartum treatment (EXIT) procedure is basically indicated for a fetus with a high risk of airway obstruction immediately after birth; it is not indicated for all AOC cases but is chosen to treat cases until the airway can be evaluated to achieve a better prognosis. CASE REPORT A 37-year-old woman was referred with reported fetal facial deformity and polyhydramnios at 27 weeks of gestation. Our fetal ultrasound scans showed agnathia, microstomia, and synotia, but not holoprosencephaly. Isolated AOC was diagnosed prenatally. Magnetic resonance imaging and microbubble tests revealed delayed fetal lung maturation, although it was not completely unmatured. With patient agreement, an emergency cesarean section with EXIT was performed because of clinical chorioamnionitis at 35 weeks of gestation. Tracheostomy was attempted for 16 min during EXIT and was completed 4 min after delivery. Despite this, the neonate died 12 h after delivery from severe respiratory failure and a tension pneumothorax caused by a hypoplastic lung. CONCLUSIONS There is controversy surrounding the non-lethality of all isolated AOC cases and the non-contraindication of EXIT procedures. Our case was estimated as the milder variant, and the EXIT procedure was indicated; however, the neonate died of the hypoplastic lung. The evaluation methods of lung maturation are inconsistent, and the indication of the invasive EXIT procedure must be carefully considered.
Topics: Infant, Newborn; Humans; Pregnancy; Female; Adult; Cesarean Section; Craniofacial Abnormalities; Airway Obstruction; Ultrasonography, Prenatal
PubMed: 37165610
DOI: 10.12659/AJCR.939016 -
Prenatal Diagnosis Apr 2020The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly...
OBJECTIVE
The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE).
METHODS
Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE.
RESULTS
The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases.
CONCLUSION
Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.
Topics: Abortion, Induced; Adolescent; Adult; Chromosome Disorders; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 22; Consanguinity; Craniofacial Abnormalities; Egypt; Encephalocele; Female; Fetal Death; Hernia, Umbilical; Holoprosencephaly; Humans; Male; Neural Tube Defects; Pregnancy; Pregnancy in Diabetics; Prevalence; Translocation, Genetic; Triploidy; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal; Young Adult
PubMed: 31955448
DOI: 10.1002/pd.5649 -
The Journal of Craniofacial SurgeryAgnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia...
Agnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia and is a rare and often fatal diagnosis. Herein, the technical considerations and details of mandibular reconstruction using virtual surgical planning (VSP) and a vascularized free fibula flap for further mandibular reconstruction in a 10-year-old boy are presented. The patient's preoperative examination was consistent with agnathia (absence of mandibular symphysis, bilateral mandibular bodies, condyles, coronoids, rami, and temporomandibular joint), severe microstomia, and a Tessier # 30 cleft (maintained to allow oral access until later in treatment). Virtual surgical planning was utilized to plan a 3-segment fibula for the reconstruction of the mandibular symphysis and bilateral body segments, and bilateral costochondral grafts were planned for the rami. To the authors' knowledge, this represents the first application of virtual surgical planning for mandibular reconstruction with a vascularized free fibula flap in a pediatric patient with severe agnathia-otocephaly complex.
Topics: Male; Humans; Child; Microstomia; Fibula; Craniofacial Abnormalities; Free Tissue Flaps; Mandible; Jaw Abnormalities; Mandibular Reconstruction
PubMed: 36217223
DOI: 10.1097/SCS.0000000000009017 -
Pediatrics International : Official... Oct 2021
Topics: Craniofacial Abnormalities; Fatal Outcome; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Male; Pregnancy; Ultrasonography, Prenatal
PubMed: 34322968
DOI: 10.1111/ped.14601 -
The Journal of Craniofacial Surgery 2020Agnathia-otocephaly complex (AOC) is a rare malformation complex of the first pharyngeal arch that is characterized by agnathia/dysgnathia, microstomia,...
Agnathia-otocephaly complex (AOC) is a rare malformation complex of the first pharyngeal arch that is characterized by agnathia/dysgnathia, microstomia, aglossia/hypoglossia and variable displacement of the ears. Only 11 post-infancy patients with severe AOC have been described in the literature, and the incidence of this malformation complex is estimated to be 1 per 70,000 births. In this brief clinical study, the authors describe the case of an 18-year-old female diagnosed with AOC who underwent a 3-step mandibular distraction protocol with an external distraction device. The surgical protocol the authors used was unique in that we first placed a tissue expander in the submental area to enlarge the skin envelope in an effort to mitigate skeletal relapse from soft tissue forces. Furthermore, the way in which the authors slowed the activation of the distraction device to allow for soft tissue healing behind the pins was a novel component of the patient's treatment. The 3-step mandibular distraction protocol the authors present in this study increased the length of the mandible by 20 mm, and nearly doubled the size of the patient's mandible from an initial volume of 3.62 cm to a post-operative volume of 6.89 cm. Future surgeries will aim to improve the function of our patient's expanded mandible. Most important of all, the surgical treatment authors are presenting led to a significant improvement in our patient's physical appearance and 3d quality of life.
Topics: Adolescent; Craniofacial Abnormalities; Female; Humans; Jaw Abnormalities; Mandible; Osteogenesis, Distraction; Quality of Life
PubMed: 31634311
DOI: 10.1097/SCS.0000000000005945 -
Journal of Clinical Ultrasound : JCU Jul 2019Otocephaly is an extremely rare lethal congenital anomaly characterized by the absence or underdevelopment of the mandible. The clinical presentation is variable. Some...
Otocephaly is an extremely rare lethal congenital anomaly characterized by the absence or underdevelopment of the mandible. The clinical presentation is variable. Some cases may present with severe micrognathia as the only anomaly seen prenatally. The key to early diagnosis is careful assessment of the location of the fetal ears on 2D ultrasound examination.
Topics: Abortion, Eugenic; Adult; Craniofacial Abnormalities; Ear; Female; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 30756395
DOI: 10.1002/jcu.22703