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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 -
Morphologie : Bulletin de L'Association... Jun 2019The Museum of Anatomy and Embryology Louis Deroubaix attached to the Laboratory of Anatomy, Biomecanics and Organogenesis, ULB, Brussels, possesses in its liquid...
CONTEXT
The Museum of Anatomy and Embryology Louis Deroubaix attached to the Laboratory of Anatomy, Biomecanics and Organogenesis, ULB, Brussels, possesses in its liquid collections a cephalic extremity of a lamb suffering from strophocephaly. The origins have not been determined. The trunk and the limbs are resected.
MATERIAL AND METHODS
The piece has been studied and photographed. A volumic computed tomography acquisition has been performed with a Siemens Volume Zoom. For pedagogic and museological purposes, surface reconstructions and 3D printing have been obtained.
RESULTS
An otocephaly is observed. Both ears are located in place of the oral cavity. The mandible is welded to the braincase. The eyeballs are close together (synophtalmia) which confirms the presence of a cyclotocephaly. They are surmounted by a rudimentary snout rather than a proboscis. The presence of this muzzle allows the anomaly to be classified as a strophocephaly, a malformation already described in sheeps. CT slices of the brain show a semi-lobar holoprosencephaly with incomplete division of the cerebral hemispheres and ventricules.
DISCUSSION AND CONCLUSION
The CT examination allows the facial anomalies to be allocated to a holoprosencephaly. The singularity of this case, compared to the human cyclotocephalies, is the presence of a differentiated muzzle rather than a simple proboscis. The holoprosencephaly is uncomplete. Such anomalies have been associated with an entire absence of cerebral differentiation but with a complete absence of the muzzle. The tridimensional printing represents an interesting educational tool easily transportable in contrast to the original specimen.
Topics: Animals; Craniofacial Abnormalities; Head; Holoprosencephaly; Sheep; Tomography, X-Ray Computed
PubMed: 30853367
DOI: 10.1016/j.morpho.2019.02.001 -
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 -
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 -
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 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jul 2015
Review
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Humans
PubMed: 26705046
DOI: No ID Found -
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 -
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 -
International Journal of Obstetric... May 2019High-dose volatile anesthesia is the most common method of achieving uterine relaxation for Ex Utero Intrapartum Therapy (EXIT) procedures. Other methods employ...
High-dose volatile anesthesia is the most common method of achieving uterine relaxation for Ex Utero Intrapartum Therapy (EXIT) procedures. Other methods employ nitroglycerin for additional uterine relaxation with or without remifentanil for additional fetal analgesia. We report a combination approach including one minimum alveolar concentration of volatile anesthetic plus nitroglycerin and remifentanil infusions, to provide timely uterine relaxation under general anesthesia for both mother and fetus, during two EXIT procedures.
Topics: Adult; Analgesics, Opioid; Anesthesia, General; Anesthesia, Obstetrical; Craniofacial Abnormalities; Fatal Outcome; Female; Humans; Infant, Newborn; Lymphatic Abnormalities; Male; Nitroglycerin; Pregnancy; Remifentanil; Ultrasonography, Prenatal; Uterus; Vasodilator Agents
PubMed: 30243809
DOI: 10.1016/j.ijoa.2018.08.009 -
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