[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.

[Management of five pediatric cases of orbital floor fractures]. / Prise en charge de cinq cas de fracture du plancher orbitaire chez l'enfant.

OBJECTIVE: To assess the management of orbital floor fractures and their aftereffects in children. PATIENTS AND METHODS: We retrospectively studied five children with isolated orbital floor fractures who were operated (with a perioperative steroid and antibiotic treatment) between 1998 and 2007 in our pediatric hospital. At the first visit, they all had a complete clinical examination, a Hess-Lancaster test, and a computed tomography (CT) scan. At the last visit, they all had a clinical examination and four children underwent a Hess-Lancaster test. RESULTS: After a median follow-up of 26 months (range, 4-100 months), no child had diplopia, all Hess-Lancaster tests were normal, and two children suffered from infraorbital hypoesthesia. CONCLUSION: Surgical repair associated with steroids and antibiotics in orbital floor fracture with our surgical indications has led to good functional results with minimal complications.

[Diagnosis and management of cervicofacial congenital teratomas: about 4 cases, literature review and restatement]. / Diagnostic et prise en charge des tératomes cervicofaciaux congénitaux : à propos de quatre cas, revue de la littérature et mise au point.

Cervicofacial teratomas are rare developmental lesions, more often benign in their histology. They can lead to respiratory distress and death caused by airway obstruction at birth. Prenatal diagnosis raises on ultrasound examination precising locoregional consequences of the tumor and surgical possibilities. In the propitious cases, prenatal MRI examination is useful to precise tumor's limits and cerebral status of the foetus. At birth, coordinate management involving anaesthetists, paediatricians and specialized surgeons decrease morbidity and mortality. Complete early surgical excision must be managed as soon as possible and planned thanks to TDM end MRI examination.

Pierre Robin sequence: a series of 117 consecutive cases.

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses.

Oroesophageal motor disorders in Pierre Robin syndrome.

BACKGROUND: Feeding disorders are one of the main clinical features in PRS, which combines a posterior U-shaped cleft palate, retrognathia, and glossoptosis. The aim of this study was to evaluate the oral and esophageal motor function of children with PRS without additional neurologic symptoms. METHODS: All children hospitalized with Pierre Robin syndrome either isolated (n = 27) or associated with Stickler syndrome (n = 8) were included. Clinical evaluation of their oroesophageal disorders and systematic esophageal manometry were performed. RESULTS: Feeding disorders were always present, but type of disorder varied from one child to another. Esophageal disorders were frequent and seemed to be resistant to classic gastroesophageal reflux treatment. Eighty-six percent of the children required nasogastric tube feeding for a mean duration of 8.6 months. Esophageal manometric abnormalities were noted in 50% of the children: lower esophageal sphincter hypertonia, failure of lower esophageal sphincter relaxation at deglutition, and esophageal dyskinesia. These clinical and manometric disorders showed a trend to spontaneous regression after 12 months. CONCLUSION: In the current Pierre Robin syndrome series, clinical and manometric anomalies of oroesophageal motility were always present. The authors identified an unusual manometric pattern that has also been described in situations of neurovegetative instability. It could reflect dysregulation of the control of the central pattern generators of swallowing in the brain stem.

A case of primitive floor of the mouth paraganglioma in a child: an embryological theory unifying viscerocranium appended paragangliomas.

BACKGROUND: Paragangliomas are unusual tumors in the head and neck originating from the paraganglia or glomus cells of neural crest origin. METHODS: We describe the first case of a primitive paraganglioma of the floor of the mouth presenting in childhood. RESULTS: Complete surgical removal was performed after embolization of the left lingual artery. There was no evidence of either persistent or recurrent disease 5 years after surgery. The embryologic and anatomic origins of head and neck paragangliomas are reviewed. CONCLUSIONS: An embryologic theory based on the common neural crest origin and migration pathways of both autonomic viscerocranium appended ganglias and paragangliomas is proposed that unifies the topographically heterogeneous group of viscerocranium-appended paragangliomas.

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain.

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are distributed in a sharply circumscribed sector of the vasculature of the avian embryo. As NCCs detach from the neural folds that correspond to the future posterior diencephalon, mesencephalon and rhombencephalon, they migrate between the ectoderm and the neuroepithelium into the anterior/ventral head, encountering mesoderm-derived endothelial precursors. Together, these two cell populations build a vascular tree rooted at the departure of the aorta from the heart and ramified into the capillary plexi that irrigate the forebrain meninges, retinal choroids and all facial structures, before returning to the heart. NCCs ensheath each aortic arch-derived vessel, providing every component except the endothelial cells. Within the meninges, capillaries with pericytes of diencephalic and mesencephalic neural fold origin supply the forebrain, while capillaries with pericytes of mesodermal origin supply the rest of the central nervous system, in a mutually exclusive manner. The two types of head vasculature contact at a few defined points, including the anastomotic vessels of the circle of Willis, immediately ventral to the forebrain/midbrain boundary. Over the course of evolution, the vertebrate subphylum may have exploited the exceptionally broad range of developmental potentialities and the plasticity of NCCs in head remodelling that resulted in the growth of the forebrain.

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.

[Hemifacial microsomia. Embryological and clinical approach]. / Microsomies hémifaciales. Approche embryologique et clinique.

Hemifacial microsomia is an otomandibular dysplasia which includes congenital malformations affecting the jaw and ear apparatus. The knowledge of normal embryonic development is a prerequisite for optimal clinical management of those malformations. The development of craniofacial structures is a multi-step process, which involves many developmental events ranging from the migration of neural crest cells from the neural folds of the young neurula embryo to molecular signaling interactions that coordinate outgrowth and patterning of the facial primordia. Our current knowledge of craniofacial development is limited, but the use of animal developmental models will contribute significantly to our understanding of human otomandibular dysplasias. In this review we discuss both the classical and current aspects of otomandibular development. A clinical approach to hemifacial microsomia is proposed. Current pathogenetic hypotheses of hemifacial microsomia and also mandibulofacial dysostosis are reviewed.

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.

Anterior cephalic neural crest is required for forebrain viability.

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part of this NCC population forms the outer wall of capillaries within the prosencephalic leptomeninges and neuroepithelium itself. The surgical removal of NCC from the anterior head of chick embryos leads to massive cell death within the forebrain neuroepithelium during an interval that precedes its vascularization by at least 36 hours. During this critical period, a mesenchymal layer made up of intermingled mesodermal cells and NCC surround the neuroepithelium. This layer is not formed after anterior cephalic NCC ablation. The neuroepithelium then undergoes massive apoptosis. Cyclopia ensues after forebrain deterioration and absence of intervening frontonasal bud derivatives. The deleterious effect of ablation of the anterior NC cannot be interpreted as a deficit in vascularization because it takes place well before the time when blood vessels start to invade the neuroepithelium. Thus the mesenchymal layer itself exerts a trophic effect on the prosencephalic neuroepithelium. In an assay to rescue the operated phenotype, we found that the rhombencephalic but not the truncal NC can successfully replace the diencephalic and mesencephalic NC. Moreover, any region of the paraxial cephalic mesoderm can replace NCC in their dual function: in their early trophic effect and in providing pericytes to the forebrain meningeal blood vessels. The assumption of these roles by the cephalic neural crest may have been instrumental in the rostral expansion of the vertebrate forebrain over the course of evolution.

Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

OBJECTIVE: The objective of this study was to demonstrate that the branchiooculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment. RESULTS: Using an embryologic study, we linked the clinical features and the level of the neural crest deficiency. We report here two cases of BOF syndrome with a particular branchial cleft presenting as bilateral supernumerary thymus glands on the surface of the skin; one of the cases was associated with tetralogy of Fallot. One patient underwent lip reconstruction at 4 months, combined with excision of bilateral auricular pits and superior labial fistula. The other patient had a surgical correction of the tetralogy of Fallot, and at 2 months, the two stages of the lip reconstruction were performed, combined with bilateral auricular pit excision. Both patients have shown normal developmental patterns to date. CONCLUSION: The BOF syndrome must be considered as a neurocristopathy at different levels, with a tiny mesencephalo-prosencephalic lesion and a severe rhombencephalic lesion that includes seven consecutive hindbrain segments, from rhombomere 2 to rhombomere 8.

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.