Gérard Couly's research while affiliated with Hôpital Universitaire Necker and other places

Publications (70)

Article
Résumé L’examen des oreilles en anténatal fait partie intégrante de l’examen approfondi de la face fœtale. La découverte d’une anomalie, qu’elle soit faite de manière fortuite ou lors d’un examen approfondi complémentaire, amène l’échographiste à déterminer son caractère isolé ou associé, pour ainsi caractériser son éventuelle appartenance à une en...
Article
Full-text available
Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phona...
Article
L’émergence du langage doit son succès à des circonstances favorables de l’Évolution : la genèse neurogénomique du centre moteur frontal pneumo-laryngo-bucco-lingual de Broca, associée au gène FOXP2 ; l’utilisation, pour la production du langage, de la neuro-fonctionnalité des organes de la respiration et de l’oralité nutritionnelle, efficiente dep...
Preprint
Full-text available
We assessed the phonatory and morphological outcome of 72 cognitively unimpaired adolescents with Pierre Robin Sequence (PRS), studied their generic (Kidscreen-52), oral (COHIP-SF19) and vocal (VHI-9i) qualities of life (QoL), and sought to identify determinants of these outcomes. Two-thirds of our adolescents retained low or moderate phonation dif...
Article
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Human oro-pharyngeal feeding is old as mammals's (150 millions years). This fonction is performed and coordinated by the central and peripheric nervous system. Thus, eating and speaking use the same anatomic ducts and ways. To that purpose, the Broca praxic language area is close to the praxic area of the motor mastication and swallowing control in...
Article
Full-text available
Objectives Craniofacial deformities have a high psychosocial impact. The aim of this paper is to improve obstetric ultrasonography and prenatal detection of facial anomalies by providing a new fetal dental panorama. Material and methods The present study describes a new modality to visualize the fetal tooth germs and an easy step-by-step diagnosti...
Article
Full-text available
Background Vertebrate head development depends on a series of interactions between many cell populations of distinct embryological origins. Cranial mesenchymal tissues have a dual embryonic source: - the neural crest (NC), which generates most of craniofacial skeleton, dermis, pericytes, fat cells, and tenocytes; and - the mesoderm, which yields mu...
Article
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 pr...
Chapter
Facial tumors can affect various aspects of the face that are most often linked to their anatomopathological origin.
Chapter
The study of the fetal eye is an important moment in the examination of the face as numerous ocular anomalies are often found in syndromic disorders. Precise knowledge of the of normal semeiology is essential to better understand pathological aspects.
Chapter
The facial bones, as they appear in a fetal ultrasound image, result from a continuous process of development, regulated and sequenced by genetic and molecular embryology, which progressively constructs the face like epigenesis.
Chapter
The ultrasound of the face is perhaps the most important moment in the examination of the fetus with regards to the impact for the parents who have come to “see their baby.”
Chapter
Facial clefts are found in 272 different syndromes, the frequency of cleft lips and palate is 0.5/1000, or 1/500, 41 % of which are associate with other organ anomalies, and only 6/10 being isolated.
Chapter
The study of fetal face anomalies using precise, reproducible, anthropometric criteria helps avoid the too-frequent subjectivity found in an approach that is not truly quantified. The discovery of dysmorphism and its characterization is one way that is frequently used to uncover various pathological fetal syndromes.
Book
This atlas offers a guide to studying the fetal face by means of ultrasound analysis. It describes key phases in cranial-facial development, allowing the reader to learn the related semiology from its most simple iteration to the most complex one. The overall examination of a newborn’s face offers a rich source of information and can guide the ge...
Conference Paper
Objectives: To present the usefulness of a fetal dental panoramic in the prenatal diagnosis of orofacial anomalies or syndromes. Methods: Technological advances in 3D sonography allow us to focus on some previously invisible elements such as the dental organ. The Fetal Dental Panoramic acquisition requires a fetus with a head in a deflective positi...
Article
Objectives We propose a sonographic method to identify the fetal hyoid bone in an axial or sagittal way. Visualisation of the fetal hyoid bone could be an interesting anatomic and functional marker in fetal neck and face malformations such as lymphangioma or Pierre Robin syndrome. Methods Thanks to pathological exams, we know that fetal hyoid bone...
Article
Technological advances in the field of fetal ultrasound have allowed us to push the boundaries beyond what is visible. Today, with the improvements in image quality, we are able to study the dental organ into the jaws during the fetal growth. This ultrasonographic image, which we call Fetal Dental Panoramic, allows us to objectify the normal and pa...
Article
“What does the sonologist need to tell the orofacial team ?” was the question discussed by Mulliken and Benacerraf in 2001 (Mulliken and Benacerraf, 2001). Since that date, the prenatal diagnosis of orofacial clefts has made dramatic advances. Usually, the presence of a cleft is suspected through a noose-mouth coronal view using 2D ultrasonography....
Article
Lip analysis necessitates visualization of the coronal planes, and, in the case of bilateral clefts, the midsagittal plane. The palate (alveolus, maxilla, secondary palate) is best analyzed using coronal and axial planes. We have developed a surface-rendered representation, corresponding to the submental intraoral photograph of the neonatal palate...
Article
Objective To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS).Method All prenatal ultrasounds that mentioned “posterior cleft palate”, or “micro or retrognathia” or “PRS” over 13 and 20 years respectively at 2 obstetrical centers were reviewed. Medical records for children with isolated PRS monito...
Article
Design: Observations of wild chimpanzees ( Pan troglodytes schweinfurthii) were conducted in Kibale National Park, Uganda, at the sites of Sebitoli and Ngogo. Results: We report the first two cases of cleft lip in wild chimpanzees. Additionally, some other chimpanzees in the Sebitoli community show facial dysplasia and congenital anomalies, such...
Article
Full-text available
At least 10% of the Sebitoli chimpanzee community of the Kibale National Park (Uganda) present a characteristic facial phenotype with flattened nose, reduced nostrils, and concave mid-face. Affected individuals do not present skin lesions, and also young infants are affected. We suggest, therefore, a congenital origin of this defect.
Article
Although poorly recognized and studied, congenital sucking, swallowing, and/or feeding disorders are common. They can be the symptoms that reveal a neuromuscular disease, or that complicate a neuromuscular disease. It is essential to know feeding physiology during fetal and infant development in order to understand the variety of its disorders and...
Article
Full-text available
Pierre Robin sequence (PRS) is a congenital condition with a heterogeneous and imprecise developmental prognosis. We conducted a longitudinal prospective study analyzing the long-term developmental outcome of a consecutive series of 39 children with PRS who had an a priori good prognosis (isolated PRS or PRS associated with a Stickler syndrome) but...
Article
The role of the neural crest (NC) in the construction of the vertebrate head was demonstrated when cell tracing techniques became available to follow the cells exiting from the cephalic neural folds in embryos of various vertebrate species. Experiments carried out in the avian embryo, using the quail/chick chimera system, were critical in showing t...
Article
First arch syndromes correspond to a wide spectrum of human latero-facial congenital anomalies affecting cranial neural crest cells (CNCCs) derivatives of the first pharyngeal arch (PA1). The abnormal traits display variable quantitative expression and are often unilateral. Mandibular skeletal defects are invariably accompanied by hypoplasia or age...
Article
Full-text available
Morphogenesis of the vertebrate facial skeleton depends upon inductive interactions between cephalic neural crest cells (CNCCs) and cephalic epithelia. The nasal capsule is a CNCC-derived cartilaginous structure comprising a ventral midline bar (mesethmoid) overlaid by a dorsal capsule (ectethmoid). Although Shh signalling from the anterior-most re...
Article
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The origin of active predation in vertebrates is associated with the rise of three major, uniquely derived developmental characteristics of the head: (i) migratory cranial neural crest cells (CNCCs) giving rise to most skeletal skull elements; (ii) expression of Dlx genes by CNCCs in the Hox-free first pharyngeal arch (PA1); and (iii) muscularizati...
Article
Full-text available
The morphogenesis of the vertebrate skull results from highly dynamic integrated processes involving the exchange of signals between the ectoderm, the endoderm, and cephalic neural crest cells (CNCCs). Before migration CNCCs are not committed to form any specific skull element, molecular signals exchanged in restricted regions of tissue interaction...
Article
The shaping of the vertebrate head results from highly dynamic integrated processes involving the growth and exchange of signals between the ectoderm, the endoderm, the mesoderm and Cephalic Neural Crest Cells (CNCCs). During embryonic development, these tissues change their shape and relative position rapidly and come transiently in contact with e...
Article
De todas las anomalías morfológicas del ser humano, las fisuras labiomaxilares uni o bilaterales y las fisuras velopalatinas siguen siendo las más frecuentes. Gracias a la ecografía tridimensional, el feto se puede observar, identificar, vigilar y medir. El descubrimiento a las 22 semanas de gestación de una fisura facial en un feto hace que la par...
Article
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...
Article
To assess the management of orbital floor fractures and their aftereffects in children. 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 examina...
Article
Full-text available
Morphogenesis of the facial skeleton depends on inductive interactions between cephalic neural crest cells and cephalic epithelia, including the foregut endoderm. We show that Shh expression in the most rostral zone of the endoderm, endoderm zone I (EZ-I), is necessary to induce the formation of the ventral component of the avian nasal capsule: the...
Article
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 ex...
Article
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 ex...
Article
Résumé. – La croissance craniofaciale est assujettie à l'expansion volumétrique des organes neurosensoriels de la tête (cerveau, yeux, langue, complexe de la capsule nasale olfactive). Ces organes, portés par le squelette ancien de la base du crâne, d'origine enchondrale, qui agit sur un second squelette superficiel de type membraneux par une expan...
Article
Studies carried out in the avian embryo and based on the construction of quail-chick chimeras have shown that most of the skull and all the facial and visceral skeleton are derived from the cephalic neural crest (NC). Contribution of the mesoderm is limited to its occipital and (partly) to its otic domains. NC cells (NCCs) participating in membrane...
Article
Full-text available
In vertebrates, the eye is an ectodermal compound structure associating neurectodermal and placodal anlagen. In addition, it benefits early on from a mesenchymal ectoderm-derived component, the neural crest. In this respect, the construction of chimeras between quail and chick has been a turning point, instrumental in appraising the contribution of...
Article
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The neural crest (NC) yields pluripotent cells endowed with migratory properties. They give rise to neurons, glia, melanocytes and endocrine cells, and to diverse 'mesenchymal' derivatives. Experiments in avian embryos have revealed that the differentiation of the NC 'neural' precursors is strongly influenced by environmental cues. The reversibilit...
Article
The most frequently encountered lesions are epithelial cysts which are absolutely benign. On the other side, sarcomas are uncommon but have a poor prognosis. Many other benign lesions may be identified by clinical examination. Diagnosis will be confirmed by histology. Most lesions will need surgical treatment. In some cases, no treatment is require...
Article
Full-text available
Fgf8 exerts a strong effect on the mesenchymal cells of neural crest (NC) origin that are fated to form the facial skeleton. Surgical extirpation of facial skeletogenic NC domain (including mid-diencephalon down through rhombomere 2), which does not express Hox genes, results in the failure of facial skeleton development and inhibition of the closu...
Article
Hyoid bone is a part of the visceral skeleton which arises from both Hox-expressing (Hox+) and Hox-nonexpressing (Hox-) cephalic neural crest cells. In a previous work, we have demonstrated that the Hox- neural crest domain behaves as a naïve entity to which the ventral foregut endoderm confers patterning cues to specify the shape and orientation o...
Article
Les stomatites du nourrisson et de l’enfant représentent un ensemble de pathologies variées dont le tableau clinique ou le traitement est, dans la plupart des cas, superposable à celui de la population adulte. Elles ont cependant certaines spécificités. Certaines peuvent être plus fréquentes que chez l’adulte : c’est le cas des infections virales,...
Article
The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that neural crest cells (NCCs) provide the pericytes, and connective and smooth muscle cells to the entire branchial sector in an ordered fashion. Initial N...
Article
Full-text available
Diencephalic, mesencephalic and metencephalic neural crest cells are skeletogenic and derive from neural folds that do not express Hox genes. In order to examine the influence of Hox gene expression on skull morphogenesis, expression of Hoxa2, Hoxa3 and Hoxb4 in conjunction with that of the green fluorescent protein has been selectively targeted to...
Article
Unlabelled: Pierre Robin sequence (posterior U-shape cleft palate, glossoptosis, retrognathia) (PRS) is a frequent and heterogeneous neonatal condition of obscure origin. We show here that orodigestive and cardiorespiratory functional disorders are very frequent in PRS and that these functional disorders, as well as anatomical and embryological da...
Article
Full-text available
The vertebrate face contains bones that differentiate from mesenchymal cells of neural crest origin, which colonize the median nasofrontal bud and the first branchial arches. The patterning of individual facial bones and their relative positions occurs through mechanisms that remained elusive. During the early stages of head morphogenesis, an endod...
Article
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%...
Article
Paragangliomas are unusual tumors in the head and neck originating from the paraganglia or glomus cells of neural crest origin. We describe the first case of a primitive paraganglioma of the floor of the mouth presenting in childhood. Complete surgical removal was performed after embolization of the left lingual artery. There was no evidence of eit...
Article
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. All children hospitalized with Pierre Robin syndrome either isolat...
Article
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.
Article
The objective of this study was to demonstrate that the branchiooculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment. 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 sup...
Article
Objective The objective of this study was to demonstrate that the branchio-oculo-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 present...
Article
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 posit...
Article
In this article we review recent findings from our laboratory on the developmental fate of the neural crest as studied in the avian embryo using the quail-chick marker system in vivo. Quail-chick chimeric experiments carried out at the late neurula stage have revealed the contribution of the neural crest to the skull vault, i.e., the frontal and pa...
Article
Mapping of the avian neural primordium was carried out at the early somitic stages by substituting definite regions of the chick embryo by their quail counterpart. The quail nuclear marker made it possible to identify precisely the derivatives of the grafted areas within the chimeric cephalic structures. A fate map of the prosencephalic neural plat...
Article
In the vertebrate embryo, the primary neural anlage, or neural plate, develops from the superficial ectoderm as a result of an inductive stimulus arising from the chordomesoderm. Although it is well established that the neural plate itself gives rise to CNS, the fate of those cells located at the junction of the neural and superficial ectoderm (als...

Citations

... Although facial morphology might remain altered, respiratory issues and feeding resolve with time. [6] In conclusion, we wish to highlight that information related to rare disorders like Andy Gump deformity should be shared to assist future caregivers in planning their actions. Also, for the staged surgical procedures, factors pertaining to each stage should be appropriately addressed. ...
... Un gène peut posséder plusieurs amplificateurs qui sont généralement situés assez loin de lui (jusqu'à une distance de 100 000 nucléotides). 4 La crête neurale désigne chez l'embryon une population de cellules transitoires et multipotentes, qui migrent dans l'ensemble de l'embryon au cours du développement et donnent naissance à une grande diversité de types cellulaires. Elle est notamment impliquée dans le développement de la face [6]. (Figure 1). ...
... Shortly after publication of our article which analyzed the clinical and molecular features of the Branchio-Oculo-Facial syndrome (BOFS) , we became aware that our patient SP2 might have been published previously [Case 2; Bennaceur et al., 1998]. The initials of the proposita, clinical examination, referring hospital, and the rarity of the congenital heart defect, tetralogy of Fallot (TOF) led us to search the records of the hospital and obtain confirmation. ...
... These psychosocial impacts are due to the presence of facial disfigurement along with dental malformation. Due to new approaches to craniofacial rehabilitation, the healthcare community can assess facial as well as dental abnormalities at the fetal stage via fetal dental panorama [15]. The main objective of this study is to comprehend dental anomalies associated with specific clefts so, that prior treatment planning of dental deformity can be assessed and managed before eruption of teeth. ...
... Cartilages in the limb and head of vertebrates can have two distinct embryonic origins: mesoderm and neural crest. The appendicular skeleton within fins or limbs derives from lateral plate mesoderm, whereas cranial neural crest-derived ectomesenchyme gives rise to a large portion of the cranial skeleton, including the jaws, anterior calvarium, palate, and hyoid bone (Couly et al., 1993;Knight and Schilling 2006;Fonseca et al., 2017). IMM and MAT are present in both the limb and head, so mesenchyme derived from both mesoderm and neural crest can produce both types of chondrocyte. ...
... The potential of 3D printing in surgical education and training has been previously described [46,47]. Recently, AM of patient-specific models has emerged as a new field of interest, especially for patient education and surgical training [54][55][56]. In this context, university and teaching hospitals, as training and higher education institutions, are of particular importance. ...
... Around 30% of children with RS also have an additional syndromic diagnosis, with Stickler syndrome, 22q11 deletion syndrome, and fetal alcohol syndrome being most frequently reported (Izumi et al., 2012;Levaillant et al., 2017;Karempelis et al., 2020). Additional syndromic diagnoses will impact on speech and language outcomes for these children. ...
... While US is the preferred modality to visualize prenatal tooth buds [17][18][19], it has never reached clinical routine use. Furthermore, fetal US is operator-dependent and has inherent limiting factors such as maternal habitus, oligohydramnios, and the position of the fetal face during the examination [5]. ...
... Assessing the secondary fetal palate can be performed with the use of multiplanar or tomographic reconstructions provided by three-dimensional (3D) ultrasonography [10][11][12][13][14][15][16][17][18] or through a 2D ultrasound technique 19 . Even if those different 2D or 3D methods enable to obtain good images of the fetal posterior palate, it appears that the diagnostic accuracy of This article is protected by copyright. ...
... However, 3D ultrasonography can visualize the cleft of the hard palate by many imaging methods, such as ''reverse face,'' ''flipped face,'' ''oblique face,'' and ''surface-rendered oropalatal view.'' 14,15 In our case, the bony defect of SMCP was visualized in the axial view of the palate, rendered by 3D ultrasound. Significantly, the shape and extent of this defect of the hard palate presented in 3D ultrasonic imaging were similar to the postmortem 3D CT reconstruction of the palate. ...