[Antenatal ear examination: When, how and why?] / L'examen des oreilles en anténatal : quand, comment et pourquoi ?

Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner - geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.

Three-dimensional printed haptic model from a prenatal surface-rendered oropalatal sonographic view: a new tool in the surgical planning of cleft lip/palate.

Three-dimensional (3D) ultrasound has significantly improved prenatal screening and perinatal care in the area of cleft lip/palate and other deformities, providing essential preoperative information to the surgical team. However, current 3D reconstruction modalities are limited primarily to display on a two-dimensional surface. In contrast, a 3D printed haptic model allows both the surgeon and the parents to develop a better understanding of the anatomy and the surgical procedure through the ability to interact directly with the printed model. The production of a 3D printed haptic model of cleft lip and palate obtained from a surface-rendered oropalatal sonographic view is presented here. The development of this 3D printed haptic model will allow the surgical team to perform preoperative planning with a highly accurate medical model, and it therefore represents a new tool in the management of cleft lip/palate. It also provides better prenatal information for the parents.

The angiogenic potentials of the cephalic mesoderm and the origin of brain and head blood vessels.

We have used two molecular markers to label blood vessel endothelial cells and their precursors in the early avian embryo. One marker, called Quek1, is the avian homologue of the mammalian VEGF receptor flk-1 and the other is the MB1/QH1 monoclonal antibody. Quek1 is expressed in a subset of mesodermal cells from the gastrulation stage. Quek1 positive cells later form blood vessel endothelial cells and express the MB1/QH1 antigen which is specific for endothelial and hemopoietic cells of the quail species. These two markers allowed us first to show that the cephalic paraxial mesoderm has angiogenic potentials which are much more extended than its trunk counterpart (the somites). Secondly, the origin of the endothelial cells lining the craniofacial and head blood vessels was mapped on the 3-somite stage cephalic mesoderm via the quail-chick chimera technique, in which well defined mesodermal territories are exchanged between stage-matched embryos of both species in a strictly isotopic manner. We found that the anterior region of the cephalic paraxial mesoderm is largely recruited to provide the forebrain and the upper face with their vasculature. This means that large volumes of tissues are vascularized by a discrete region of the cephalic mesoderm, the fate of which is otherwise to give rise to muscles. The widespread expansion of the angiogenic cells arising from the anterior paraxial mesoderm must be related to the high growth rate of the anterior region of the neural primordium, yielding the telencephalon and of the neural crest-derived facial structures which are themselves devoid of angiogenic potencies.(ABSTRACT TRUNCATED AT 250 WORDS)

Expression of the SOX10 gene during human development.

SOX10, a new member of the SOX gene family, is a transcription factor defective in the Dom (Dominant megacolon) mouse and in the human Shah-Waardenburg syndrome. To help unravel its physiological role during human development, we studied SOX10 gene expression in embryonic, fetal, and adult human tissues by Northern blot and in situ hybridization. As in mice, the human SOX10 gene was essentially expressed in the neural crest derivatives that contribute to the formation of the peripheral nervous system, and in the adult central nervous system. Nevertheless, it was more widely expressed in humans than in rodents. The spatial and temporal pattern of SOX10 expression supports an important function in neural crest development.

Congenital microgastria with Pierre Robin sequence and partial trismus.

A female with congenital microgastria, Pierre Robin sequence and partial trismus is described. This is a previously undescribed association and the etiology of the association is discussed.

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome.

[Neonatal trismus]. / Le trismus néonatal.

BACKGROUND: Trismus is caused by sustained contraction of the jaw-closing muscles. It is rare in the neonate and can be a part of developmental defects. PATIENTS AND METHODS: Twenty-four neonates, aged 1 to 12 days, were admitted from 1980 to 1992 because they suffered from trismus. All of them had severe difficulties of sucking and/or swallowing, some (12/24) had repeated episodes of apnoea requiring tracheotomy. Specialized investigations included transcutaneous PO2 and PCO2 monitoring, polygraphic recordings during sleep, 24-hour Holter monitoring, ocular compression test, barium swallow, manometry and 24-hour pH monitoring of the distal esophagus, electromyography of muscles involved in swallowing and several imaging techniques. RESULTS: Twenty-one patients had anomalies of the facies and brain stem dysfunctions. They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, cleft palate and glossoptosis, as Hanhart syndrome (four patients) and Moebius syndrome (three patients). The last three patients had arthrogryposis (two patients) and Stuve-Wiedeman syndrome. Twenty-two of 24 patients had severe gastroesophageal reflux, 15 of 20 had increased vagal reactivity and five of 24 had anomalies of the central nervous system. Eight patients died during the first year of life. CONCLUSION: Neonatal trismus is a poor prognostic sign, requiring specialized investigations and frequently resuscitation techniques.

[Isolated neonatal dysfunction of brainstem]. / Le dysfonctionnement néonatal isolé du tronc cérébral.

BACKGROUND: Brainstem dysfunction in newborns (BDN) is an association of symptoms originally described in the Pierre-Robin sequence. BDN is thought to result from a deficiency of the sucking and swallowing embryonic organization. POPULATION AND METHODS: Between 1983 to 1993, 48 infants without cleft palate were referred for suck and swallow abnormalities. They were considered to have BDN because they presented three of the four following criteria: neonatal suck and swallow difficulties; pharyngeo-oesophageal uncoordination with abnormal oesophageal manometria; upper airway obstruction, either clinically obvious or detected on laryngoscopy; vagal overactivity, either clinically obvious or detected during Holter recording with ocular compression. RESULTS: Among these 48 infants, 30 were affected with polymalformative syndrome often involving embryonic fields derived from the neural crest. Three infants had a conotruncal cardiac malformation and 15 had no associated malformation. These latter 15 infants presented with facial dysmorphic features including reciding chin, glossoptosis. U-shape palate and a vertical tongue. From birth or the first weeks of life, they had suck and swallow difficulties with various functional symptoms: slow baby bottle intake, cough or velo-pharyngeal incoordination, upper airway obstruction or apparent life threatening events (ALTE). Diagnosis was confirmed by both clinical observation and three simple investigations namely: laryngoscopy, oesophageal manometria and Holter recording with ocular compression. Ten children were nasogastric tube or gastrostomy fed, one had a tracheostomy and one had a nightly O2 supplementation. While the overall functional prognosis was good whatever the initial symptoms, 50% of these children had mental retardation, mostly moderate. CONCLUSION: Examination of short-term follow-up in these children has stressed that BDN requires a specific management of both nutritional and respiratory troubles. Finally, BDN should lead to the active search of an underlying polymalformative syndrome and to an accurate neurologic evaluation.

[Biological development of temporomandibular joints. New attainments (author's transl)]. / Biologie du développement des articulations temporo-mandibulaires. Acquisitions récentes.

Insofar as they are mobile, coupled organs of the masticatory system, the two human temporomandibular joints, true membranous sutures, are bound by their relations with the central nervous system and by the general laws of osteoarticular biomechanics. Certain invariants of temporomandibular morphogenesis are described, these concerning human cephalization phenomena, and more particularly the role of the neural crests in the elaboration of the temporomandibular relationship, its biomechanical features, and articular kinematics. The role of Marsch Robinson's theory, neurocristopathic malformations, and total temporomandibular joint prostheses are discussed. Fundamentally biomechanical in nature, dentomaxillofacial, and by extension, cephalic orthopedics require a multidisciplinary approach.

[Parotid carcinoma in children. Apropos of 3 cases]. / Carcinome de la parotide chez l'enfant. A propos de 3 cas.

Three pediatric cases of parotid carcinoma are reported two are acinic cell carcinoma of relatively good prognosis. The third case is a cystic variety of salivary duct carcinoma, more exceptional, which prognosis remains uncertain. A review of the parotid tumors of this age range is done.

[Neuroglial heterotopia. Apropos of 8 cases with non-nasofrontal sites]. / Les hétérotopies neurogliales. A propos de 8 cas de localisations non naso-frontales.

Neuroglial heterotopia, glioma, is an uncommon congenital nervous tissue tumor, usually found in a nasofrontal localization. About 60 cases with an atypical localization, usually in the pterygomaxillary fossa have been reported. We present 8 cases. Symptomatology followed CT-scan or MRI identified localization and was helpful in orienting diagnosis before biopsy. Exeresis was difficult, particularly in deep infratemporal localizations reaching the base of the skull. The main risk is recurrence. Different surgical approaches have been discussed and should be adapted to each case.

[Labio-maxillary and velopalatine clefts. Clinical and therapeutic aspects]. / Les fentes labio-maxillaires et vélopalatines. Clinique et thérapeutique.

Harelip, facial cleft and cleft palate are frequent accidents of facial development. There is nothing special with their embryological mechanism, but their consequences concerning the future anatomy of the oral and nasal cavities are impressive. Owing to a better understanding of facial embryology and of the anatomical repercussions of the clefts, satisfactory morphological results can be obtained by surgical lip repair performed with an ever increasing precision.

[Development of the face in the embryo]. / Développement embryonnaire de la face.

The facial complex and the brain develop separately from a common embryonic structure called ectoblast. The neural crest cells which migrate early on from the neural groove differentiate into facial parenchyma, so that the embryological origin of the face is a neural one. The cephalic pole has a primitive encephalofacial and encephalocervical segmentation with strict topographical correspondence: the nasofrontral and premaxillary structures are related to the anterior brain, whereas the maxillo-mandibular and anterior cervical structures are related to the brainstem and its nerves. Thus the face is a qualitative, quantitative and topographical marker of the central nervous system. At the beginning of the third month the embryo becomes a foetus due to the appearance of the first oral and pharyngeal motor sequences which are dependent upon the neurological development of the brainstem. This sum of embryological knowledge has clinical semiological applications: the face and its functions play the predictive role in the search for associated malformations of the same neural origin (brain, eye, neck, thorax). Such malformations are neurocristopathies.

[The value of CT and MRI in the assessment of basal encephaloceles in children]. / Apport du CT et de l'IRM dans l'évaluation des céphalocèles basales de l'enfant.

Basal cephaloceles of the child are rare pathologies which require accurate preoperative imaging work-up. The CT and MR studies of six children with surgically proven basal cephalocele were retrospectively reviewed to evaluate the role of CT and MR in the preoperative work-up of a basal cephalocele of the child. In five patients, MR allowed to define the nature and topography of the cephalocele, and allowed an accurate depiction of the optic tract, ante- and post-hypophysis and associated agenesis of corpus callosum when present. 3-D CT allowed in one case a more precise depiction of the basal bony defect. MRI allows in a non invasive and non ionising way the best depiction of herniating meninges, brain or ventricles as well as associated cerebral anomalies.