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Case Reports in Obstetrics and... 2016Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report...
Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment.
PubMed: 27579201
DOI: 10.1155/2016/8512351 -
Clinical Dysmorphology Apr 2017
Topics: Adult; Craniofacial Abnormalities; DNA Mutational Analysis; Diagnosis; Female; Genetic Association Studies; Humans; Infant, Newborn; Mutation; Otx Transcription Factors; Phenotype; Pregnancy; Pregnancy Trimester, First; Ultrasonography, Prenatal
PubMed: 27442045
DOI: 10.1097/MCD.0000000000000145 -
A & a Case Reports Jul 2016Otocephaly complex is a rare and usually lethal syndrome characterized by a set of malformations consisting of microstomia, mandibular hypoplasia/agnathia, and... (Review)
Review
Otocephaly complex is a rare and usually lethal syndrome characterized by a set of malformations consisting of microstomia, mandibular hypoplasia/agnathia, and ventromedial malposition of the ears. Those cases that have been diagnosed prenatally have used an ex utero intrapartum treatment procedure to establish a definitive airway. However, prenatal diagnosis continues to be challenging, primarily because of poor diagnostic sensitivity associated with ultrasonography. We present a case of a newborn with an unanticipated otocephaly complex requiring emergent airway management. In this report, we discuss the medical and ethical issues related to the care of a newborn with this frequently fatal condition.
Topics: Craniofacial Abnormalities; Fatal Outcome; Female; Humans; Infant, Newborn; Withholding Treatment; Young Adult
PubMed: 27258179
DOI: 10.1213/XAA.0000000000000340 -
The Journal of Obstetrics and... Aug 2016Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly...
Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.
Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.
Topics: Adult; Branchial Region; Craniofacial Abnormalities; Female; Fibula; Fingers; Humans; Image Interpretation, Computer-Assisted; Imaging, Three-Dimensional; Maternal Exposure; Nasal Decongestants; Oxymetazoline; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Ulna; Ultrasonography, Prenatal
PubMed: 27087030
DOI: 10.1111/jog.13014 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jul 2015
Review
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Humans
PubMed: 26705046
DOI: No ID Found -
The Journal of Craniofacial Surgery Nov 2015Agnathia-otocephaly complex (AOC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Though rare and often fatal, this is...
Agnathia-otocephaly complex (AOC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Though rare and often fatal, this is the first report detailing various reconstructive strategies beyond infancy as well as longitudinal follow-up into adulthood. All patients with AOC treated at our institution over a 30 year period were reviewed. Four patients were identified, one with agnathia, one with micrognathia. Two males with nanognathia (defined as a symphyseal remnant without body nor ramus) were also included. The mean follow-up was 17 years. All four underwent perinatal tracheostomy and gastrostomy-tube placement. Commissuroplasties were typically performed before 3 years of age and repeated as necessary to allow for oral hygiene. Mandibular reconstruction was most successful with rib between ages 3 and 8, after which time, free fibula transfer was utilized. Due to some resoprtion or extrusion, all patients underwent repeated bone grafting procedures. Tissue expansion of the neck was used to restore the lower third of the face, but was most successful in the teenage years. At last follow-up of the eldest patients, one was in college while another was pursuing graduate education. AOC need not be a fatal nor untreatable condition; a reasonable quality of life can be achieved. Although the lower-facial contour may be improved, and a stoma created, the lack of musculature make deglutition virtually impossible with current therapies. Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be a future option for congenital deformities.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Ear, External; Female; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Jaw Abnormalities; Longitudinal Studies; Male; Mandible; Mandibular Reconstruction; Microstomia; Pregnancy; Quality of Life; Reoperation; Tomography, X-Ray Computed; Tongue Diseases; Ultrasonography, Prenatal; Young Adult
PubMed: 26517463
DOI: 10.1097/SCS.0000000000002150 -
Journal of Clinical and Diagnostic... Sep 2015Otocephaly is a rare malformation characterized by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of...
Otocephaly is a rare malformation characterized by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). This rare anomaly of the ventral portion of first brachial arch is a consequence of failure of migration of neural crest cells from hind brain. It leads to the development of maxillary and mandibular prominences and starts to develop at the fourth and fifth week of gestation. We hereby present the autopsy findings of a fetus of 28 weeks gestation abortus having otocephaly without holoprosencephaly.
PubMed: 26500912
DOI: 10.7860/JCDR/2015/13636.6444 -
Journal of Human Genetics Apr 2015Agnathia-otocephaly complex is a malformation characterized by absent/hypoplastic mandible and abnormally positioned ears. Mutations in two genes, PRRX1 and OTX2, have...
Agnathia-otocephaly complex is a malformation characterized by absent/hypoplastic mandible and abnormally positioned ears. Mutations in two genes, PRRX1 and OTX2, have been described in a small number of families with this disorder. We performed clinical and genetic testing in an additional family. The proband is a healthy female with a complicated pregnancy history that includes two offspring diagnosed with agnathia-otocephaly during prenatal ultrasound scans. Exome sequencing was performed in fetal DNA from one of these two offspring revealing a heterozygous duplication in OTX2: c.271_273dupCAG, p.(Gln91dup). This change leads to the insertion of a glutamine within the OTX2 homeodomain region, and is predicted to alter this signaling molecule's ability to interact with DNA. The same variant was also identified in the proband's clinically unaffected 38-year-old husband and their 9-year-old daughter, who presented with a small mandible, normal ears and velopharyngeal insufficiency due to a short hemi-palate. This unusual presentation of OTX2-related disease suggests that OTX2 might have a role in palatal hypoplasia cases. A previously unreported OTX2 variant associated with extreme intrafamilial variability is described and the utility of exome sequencing as a tool to confirm the diagnosis of agnathia-otocephaly and to inform the reproductive decisions of affected families is highlighted.
Topics: Abnormalities, Multiple; Adult; Child; Female; Gene Duplication; Genetic Association Studies; Heterozygote; Humans; Male; Models, Molecular; Mutation; Otx Transcription Factors; Pedigree; Phenotype; Protein Conformation; Reading Frames; Velopharyngeal Insufficiency
PubMed: 25589041
DOI: 10.1038/jhg.2014.122 -
Molecular Syndromology Dec 2014The 22q11.2 deletion syndrome (22q11DS) is thought to be a contiguous gene syndrome caused by haploinsufficiency for a variable number of genes with overlapping function...
The 22q11.2 deletion syndrome (22q11DS) is thought to be a contiguous gene syndrome caused by haploinsufficiency for a variable number of genes with overlapping function during the development of the craniofacial, pharyngeal and cardiac structures. The complexity of genetic and developmental anomalies resulting in 22q11DS has made attributing causation to specific genes difficult. The CRKL gene resides within the common 3-Mb region, most frequently affected in 22q11DS, and has been shown to play an essential role in the development of tissues affected in 22q11DS. Here, we report the characterisation of a mouse strain we named 'snoopy', harbouring a novel Crkl splice-site mutation that results in a loss of Crkl expression. The snoopy strain exhibits a variable phenotype that includes micrognathia, pharyngeal occlusion, aglossia and holoprosencephaly, and altered retinoic acid and endothelin signalling. Together, these features are reminiscent of malformations occurring in auriculocondylar syndrome and agnathia-otocephaly complex, 2 conditions not previously associated with the CRKL function. Comparison of the features of a cohort of patients harbouring small 22q11.2 deletions centred over the CRKL gene, but sparing TBX1, highlights the role of CRKL in contributing to the craniofacial features of 22q11DS. These analyses demonstrate the central role of Crkl in regulating signalling events in the developing oropharyngeal complex and its potential to contribute to dysmorphology.
PubMed: 25565927
DOI: 10.1159/000368865 -
Medical Ultrasonography Dec 2014A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal...
A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal horizontal position of the ears. 2D ultrasound performed at 25 weeks of gestation revealed agnathia, proboscis and hypotelorism. 3D ultrasound (rendering mode) and magnetic resonance imaging were used to evaluate the facial features, and were essential for characterization of facial malformations in otocephaly and for the demonstration and correct prenatal counseling of the couple.
Topics: Abnormalities, Multiple; Adult; Craniofacial Abnormalities; Fatal Outcome; Female; Humans; Imaging, Three-Dimensional; Infant, Newborn; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 25463893
DOI: 10.11152/mu.201.3.2066.164.wjh1