1/34. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/34. Midface distraction.Since the initial application of distraction osteogenesis to the human mandible by McCarthy, distraction osteogenesis has been used for gradual lengthening of the midface in children with syndromic craniosynostosis, cleft lip and palate, hemifacial microsomia, and midface hypoplasia from other causes. Both external and internal devices are available that permit midface distraction. The background of midface distraction and the development of a Modular Internal Distraction (MID) system that permits widespread use of easily customized, buried distraction devices throughout the craniofacial region are presented. The relative and potential clinical indications for distraction, treatment planning, patient preparation, and possible surgical orthodontic interactions during distraction, as well as a variety of case examples showing the MID system, are discussed.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
3/34. Apert syndrome: a case report with discussion of craniofacial features.Apert syndrome is a rare congenital anomaly characterized by acrocephaly, syndactyly, and abnormalities of other organs. It has characteristic features in the orofacial region, affecting the eyes, palate, middle third of face, and uvula. In this case report, the features of Apert syndrome, particularly in relation to the orofacial region, are discussed.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/34. Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome.Apert's syndrome is a developmental malformation characterized by: craniosynostosis, a cone-shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, the cranial base, and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a maxillary pseudocleft palate, and a skeletal and dental anterior open bite. This is a case report of an Apert's syndrome patient with a discussion of the orthodontic and dentofacial orthopedic considerations that influenced the treatment plan.- - - - - - - - - - ranking = 0.5keywords = craniofacial (Clic here for more details about this article) |
5/34. Saethre-Chotzen syndrome: review of the literature and report of a case.Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
6/34. Intracranial migration of halo fixation pins: a complication of using an extraoral distraction device.OBJECTIVE: Distraction osteogenesis is a well-accepted technique in the treatment of patients with hypoplastic craniofacial components. Complications of distraction osteogenesis are well described in the literature. We describe a complication of using an external distraction device in a 9-year-old girl with Pfeiffer. INTERVENTION AND RESULTS: A modified Lefort III osteotomy was performed for maxillary hypoplasia with application of an external distraction halo device by a pediatric neurosurgeon. A postoperative computed tomography (CT) scan showed 0.5-cm skull penetration of the cranial pins. The pins were repositioned and the patient was followed up on a regular basis until discharge from the hospital. At 3-week follow-up, a CT scan of the head showed migration of the pins 1.5 cm intracranially. The halo was removed and repositioned at a different site. No detectable neurological sequelae from the pin penetration were noted. The patient developed cellulitis at the site of the penetration and was admitted to the hospital for a course of intravenous antibiotics. There were no other complications, and the rest of her treatment course proceeded as planned. A review of the literature on complications of halo usage as well as suggestions for their management in association with distraction osteogenesis is described.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
7/34. Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafe-au-lait spots: new acrocraniofacial dysostosis syndrome?We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple cafe-au-lait spots. The mother of the propositus has multiple cafe-au-lait spots. Search of POSSUM and the london Dysmorphology database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.- - - - - - - - - - ranking = 1.25keywords = craniofacial (Clic here for more details about this article) |
8/34. Ruptured intracranial mycotic aneurysm: an unusual infectious complication following craniofacial surgery.The case of a child with Apert syndrome is presented in which the development and rupture of an intracranial mycotic aneurysm occurred secondary to multiple infectious complications following craniofacial surgery. An endovascular procedure was utilized in an attempt to embolize the aneurysm and parent vessel. The patient recovered from her infections, but retained a residual right hemiparesis and left cranial nerve III palsy at the time of discharge. To our knowledge, this is the first report of a mycotic aneurysm developing after a craniofacial procedure. risk factors leading to aneurysm formation in this case are presented, as well as a literature review of neurological complications following craniofacial surgery.- - - - - - - - - - ranking = 1.75keywords = craniofacial (Clic here for more details about this article) |
9/34. Roentgencephalometric studies of the premature craniofacial synostoses: report of a family with the Saethre-Chotzen syndrome.Five affected individuals in 4 generations of a family with acrocephalosyndactyly (McKusick ACS Type III; Saethre-Chotzen syndrome) are reported. Serial roentgencephalometric data obtained pre- and postoperatively on the proband were compared with similar measurements on the affected mother and maternal uncle, both of whom have not had operative corrections, and the proband's unaffected older brother. Similarity in skull form among the affected individuals was demonstrated. head circumference as an index of cranial growth or intracranial capacity was misleading in assessing the intellectual potential of the affected adults. In contrast, cranial capacity, as measured by the modulus, was found to be more reliable.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/34. Dentofacial characteristics in Apert syndrome: a case report.Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.- - - - - - - - - - ranking = 0.75keywords = craniofacial (Clic here for more details about this article) |
| | Next -> |