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The choice of palliative care can be made today in the perinatal period, as it can be made in children and adults. Palliative care, rather than curative treatment, may be considered in three clinical situations: babies born at the limits of viability, withholding/withdrawing treatments in the NICU, and babies with severe malformations of genetic abnormalities identified during pregnancy. Only the last situation is addressed hereafter. In newborn infants as in older patients, palliative care aims at taking care of the baby and at providing comfort and well-being. The presence of human beings by the newborn infant, most importantly the parents and family, is of utmost importance. The available time should not be used only for care and medical treatments. Sufficient time should be kept for the parents to interact with the baby and for human presence and warmth. The best interests of the newborn infant are the main element for guiding appropriate care. Before birth, the choice of palliative care for newborn infants requires successive steps: (1) establishing a diagnosis of malformation(s) or genetic abnormalities; (2) making a prognosis and ruling out intensive treatments at birth and thereafter; (3) giving the parents appropriate information; (4) assisting the pregnant woman in deciding to continue pregnancy while excluding intensive treatment of the newborn baby; (5) dialoguing with parents about the expected duration of the baby's life and the related uncertainty; (6) planning of palliative care to be implemented at birth; (7) preparing a plan with the parents for discharging the infant from the hospital and for taking care of him over a long time, when it is deemed possible that the baby may live for more than a few days., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

The "patients' rights and end-of-life care" act, known as the Leonetti law, has allowed implementation of palliative care in neonatology as an alternative to unreasonable therapeutic interventions. A palliative care project can be offered to newborns suffering from intractable diseases. It must be focused on the newborn's quality of life and comfort and on family support. Palliative care for newborns can be provided in the delivery room, in the neonatal unit, and also at home. Going home is possible but requires medical support. Here we describe the potential benefits of the intervention of a regional team of pediatric palliative care for newborns, both in the hospital and at home. Two clinical situations of palliative care at home started in the neonatal period and the neonatal unit are presented. They are completed by a retrospective national survey focusing on the type of support to newborns in palliative care in 2014, which was conducted in 22 French regional pediatric palliative care teams. It shows that 26 newborns benefited from this support at home in 2014. Sixteen infants were born after a pregnancy with a palliative care birth plan and ten entered palliative care after a decision to limit life-sustaining treatments. Twelve of them returned home before the 20th day of life. Sixteen infants died, six of them at home. The regional pediatric palliative care team first receives in-hospital interventions: providing support for ethical reflection in the development of the infant's life project, meeting with the child and its family, helping organize the care pathway to return home. When the child is at home, the regional pediatric palliative care team can support the caregiver involved, provide home visits to continue the clinical monitoring of the infant, and accompany the family. The follow-up of the bereavement and the analysis of the practices with caregivers are also part of its tasks., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Introduction: Since the beginning of cephalometric analysis, a significant number of approaches to vertical facial proportions have been proposed. In our view, diagnosing a vertical problem has nothing to do with numbers or measurements. It's all about perceptions and - rather subjective - impressions. An "impression" of long face may be provoked by the following causes isolated or combined: vertical maxillary hyperplasia, open bite, anterior vertical mandibular hyperplasia, narrow face, lack of chin-neck definition., Method: Clinical planning in these cases is followed by 3D simulation and CAD/CAM generation of surgical splints., Conclusion: Surgical management of the Long Face Syndrome may include the following strategies isolated or combined : maxillary impaction, vertical chin reduction, counterclockwise rotation of the occlusal plane., (© EDP Sciences, SFODF, 2016.)

Objectives: To study the pregnancies followed at Rennes University Hospital from 2006 to 2012, after prenatal diagnosis of lethal fetal condition and prenatal project of palliative care at birth consisting of comfort care emphasizing parent-child encounters and bonding., Material and Methods: Retrospective study of 20 pregnancies with diagnosis of lethal fetal condition where parents accepted antenatally the proposal or sought for palliative care at birth., Results: Diagnosis was made at a median age of 20 weeks gestation (12-33). Birth occurred at 37.4 WG, 6 caesarean sections were performed for maternal conditions. Six cases of hypoplastic left heart syndrome (HLHS) share common characteristics: good Apgar score, prolonged survival (26hours to 159days) transfer to neonatology ward (6) or later at home (4). In four multiple pregnancies, the choice of SP mainly contributed to protect healthy twins during pregnancy. In birth room, there was no need for invasive procedure or drugs. Death: one occurred during labor, 8 in birth room before H2, others in neonatal ward before d4 (excluding HLHS)., Conclusion: These data will enable better antenatal preparation of both teams and parents. Lifetime, however short, allowed parents to meet with their child alive this permitting collection of memory traces and bonding., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Kabuki syndrome (OMIM: 147920) is a rare condition, mainly associating intellectual deficiency, a polymalformative syndrome, and specific morphological changes in the face. It nevertheless has a strong clinical and biological heterogeneity with rarer but very different symptoms (endocrinological anomalies, autoimmune disorders, obesity, etc.). Clinical diagnosis is difficult because it is based on a spectrum of clinical, radiological, and biological factors. Complications are numerous, sometimes interpenetrating, and early diagnosis of the disease is essential for optimal management. The development of genetic testing is therefore essential for the diagnosis of this disease. Recently, exome sequencing has helped identify two genes responsible for the disease: KMT2D (lysine (K)-specific methyltransferase 2D, better known as MLL2 - mixed lineage leukemia), and KDM6A (lysine-specific demethylase 6A). Functional studies of these genes should help clarify their role in the pathogenesis of the disease, in particular to test the hypothesis of epigenetic changes during embryogenesis and development. Finally, understanding the interactions between KMT2D and its target genes could unravel other candidate genes for hitherto unexplained Kabuki syndrome cases., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Objectives: To highlight the value of 3D ultrasound in the prenatal assessment of fetal cardiovascular abnormalities., Patients and Methods: A retrospective offline analysis of volume datasets of fetuses diagnosed with cardiovascular anomalies by 2D ultrasound was performed., Results: Thirty-four fetuses with 38 cardiac malformations were evaluated. Mean gestational age at diagnosis was 26 weeks. Isolated cardiovascular malformations were detected in 23 fetuses. Extracardiac abnormalities were identified in eight fetuses. Ten terminations of pregnancy were performed., Conclusion: Offline analysis of cardiovascular anomalies conferred significant diagnostic advantages over 2D ultrasound. 3D ultrasound is a valuable tool for the prenatal diagnosis and the management of congenital heart diseases., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Limb lymphedema is frequent and not well-known. Clinical classification distinguishes primary lymphedemas due to developmental disorders of the lymphatic system (hereditary or not, sometimes associated with other malformations) and secondary lymphedemas. Primary lymphedema is a lymphedema without a cause to explain lymphatic impairment. It is due to an abnormal lymphangiogenesis in utero. It is often associated with mutation in a gene involved in lymphangiogenesis (FOX C2, VEGFR 3, SOX18, PROX 1…). To assess clinical diagnosis, non-invasive techniques are able to study structure and function of the lymphatic system (mainly isotopic lymphography). Treatment is the complex decongestive therapy which associates manual lymphatic drainage and bandage. Predisposing or precipitating factors have to be treated (particularly streptococcal infections). Surgical treatment has precise and rare indication., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Purpose of the Study: Diaphragmatic agenesis is the most extreme anatomic form of congenital diaphragmatic defects. Clinically this pathology is not different from posterolateral diaphragmatic hernia described by Bochdalek. We describe our observations of scoliosis in 16 neonates with diaphragmatic agenesis., Material and Methods: Between 1987 and 1996, 69 neonates underwent surgery for a congenital diaphragmatic hernia (CDH) at our institution. Sixteen of these patients had the most extreme form of CDH. Ten of these 16 patients survived. Spinal and/or chest wall deformities were observed in nine patients, including isolated scoliosis in two patients, scoliosis associated with a chest wall deformity in three, and isolated chest wall deformity (pectus excavatum or pectus carnium) in four. These deformities developed between 13 months and three and a half years of age (mean: two years)., Results: For two patients the deformity was mild (Cobb angle<15 degrees ) and required only observation. A Milwaukee brace was used in three patients that had severe kyphoscoliosis. Isolated chest wall deformities were treated with observation. No patient required operative treatment for these skeletal deformities., Discussion: The preliminary results of this study indicate that chest wall deformities and scoliosis frequently occur during surgery for diaphragmatic agenesis. Nonoperative treatment is usually sufficient, however, follow-up of these patients until adulthood is recommended.

Objective of the Study: To assess the usefulness of fetal karyotyping in the management of facial cleft lip with or without cleft palate diagnosed during pregnancy and to determine which etiologic and prognosis criteria are helpful to consider for prenatal counselling., Material and Methods: Retrospective study on 35 cases of facial cleft lip and/or palate prenatally diagnosed by ultrasound examination and managed in our fetal medicine unit from 1 January 1989 to 31 December 1996. Complete follow-up was obtained for all fetuses., Results: In our series, the mean gestational age at diagnosis was 25 weeks. In 43% of the cases, additional sonographic anomalies were also recognized. These associated anomalies were more frequent when amniotic fluid quantity was abnormal. Fetal chromosomal determination was conducted in 2/3 of fetuses and numeric or structural abnormalities were found in 20% not related to the cleft size or type (lip and/or palate). All fetuses with isolated facial cleft were chromosomally normal. We report 4 midline clefts, all of them were associated with additional sonographic findings and 3 were part of an holoprosencephaly., Conclusion: Prenatal diagnosis of cleft lip and/or palate must draw attention to associated sonographic anomalies especially when amniotic fluid quantity is abnormal. Chromosomal karyotyping is not necessary when facial clefting is isolated except in cases diagnosed early in pregnancy. Midline clefts must draw attention on cerebral midline integrity.

The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.

Larsen's syndrome is characterized by the association of congenital knee, hip and elbow dislocations, characteristic facial abnormalities, joint hyperlaxity, and other inconstant malformations. A review is made after description of 12 new cases from a multicenter study. A partial modification of diagnostic criteria is proposed, based on the analysis of the frequency and localization of the deformities. Radiological aspects, surgical indications, clinical evolution, complications and late results are presented, with emphasis on lower extremity problems. Good clinical results are more remarkable in the children treated early. Periodic follow-up is obligatory for good therapeutic results.

The authors gave a definition of a filum terminale and discussed the symptomatology, the etiology and the pathophysiology. They stressed the importance of carrying out a full neurophysiological, orthopaedic, anal and urogenital examination. This is the only way of establishing an indication for surgical treatment that should be carried out early in order to minimize acute accidents.

Four cases of a median craniofacial malformation, schizoprosopia, are reported. This rare but compatible with life anomaly is included within the group of neurocristopathies of the nasofrontal bud. Patients affected present signs of more or less severe mediofacial division with, in some cases an associated encephalocele or cranial bone defect. The possible presence of an associated hypopituitarism must be investigated routinely, and substitutive hormone therapy combined with surgical treatment of the various malformations when results are positive.

Pierre Robin syndrome continuously raises problems of intensive care that are difficult to surmount. A peak has to be overcome, the date of which varies as a function of the severity of the affection, following which the infant remains a neonate at high risk. Intensive care of these infants during the neonatal period involves avoidance of the sequence of disturbances provoked by the disorders of ventilation and deglutition. Surveillance of biological variables, feeding and the fight against glossoptosis are mainly the concern of medical procedures: from orthostatic nipples to continuous gastric feeding, from procubitus to intubation with assisted ventilation, and including pharyngeal catheters and physiotherapy. Surgery is required only exceptionally at this stage, mainly in the form of hyomandibulopexy.

A series of 67 personal observations of sacrococcygeal malformation are reported, and these are reviewed together with the 249 cases in the published literature. The clinical picture and pathogenic mechanisms are discussed, and the frequent association of other congenital abnormalities, more particularly of the ano-rectal type, is stressed. The functional results obtained depend on the severity of the neurological lesions, associated malformations, and the quality of the treatments used.

On the basis of the studies of the embryogenesis of the vagina, the authors consider that malformations classically described as being partial aplasia should not be separated from the total absence of the vagina. The important feature is the association of a functioning or non functioning uterus with the absence of the vagina. They believe that it is incorrect to describe the pouch of menstrual retention associated with a functioning uterus as "haematocolpos" and that is not justified to describe the cup-shaped vestibular depression as "hemi-vagina". According to the authors, although vaginal aplasia with a functioning uterus forming a pouch of menstrual retention constitutes an absolute indication for surgery, surgery is not justified in cases of vaginal aplasia with a non functioning uterus. If Frank's method fails in these cases, the patient or the couple should be referred to a sexologist, as women with this anomaly retain a perfect femininity, although unable to conceive.