1/38. Acromelic frontonasal dysostosis.We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia. In contrast, the upper limbs were normal. This rare variant of frontonasal dysplasia may represent a distinct autosomal-recessive disorder. We suggest that the molecular basis of this condition may be a perturbation of the Sonic Hedgehog (SHH) signalling pathway, which plays an important part in the development of the midline central nervous system/craniofacial region and the limbs.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
2/38. 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 = 1.3654063583866keywords = cleft, palate (Clic here for more details about this article) |
3/38. Traumatic cranial injury sustained from a fall on the rigid external distraction device.Distraction osteogenesis has become a popular treatment of congenital maxillocraniofacial anomalies. Many ingenious internal and external devices have been developed and used. The rigid external distraction system based on systems previously used in correction of maxillary retrusion offers postoperative adjustment in two dimensions. Figueroa and Polley reported the use of this device with minimal morbidity in children as young as 5 years of age. They reported no problems with infection, bleeding, pain, loosening of the intraoral splint, dental injury, or wear problems in a series of 14 consecutive cleft patients. Recent modification of the system, rigid external distraction II, has allowed it to be applied to more complex craniofacial deformities that require a LeFort III osteotomy. A review of the neurosurgery and orthopedic literature revealed that halo complications relate primarily to the skull pins. In most cases, these complications can be prevented if the device is carefully applied and monitored. Early recognition and prompt treatment of complications are important. After experience with this system for advancement at the LeFort III level, six patients with various syndromes involving the craniofacial skeleton have undergone LeFort III level distraction osteogenesis with the rigid external distraction device in combination with a planned and stabilized frontosupraorbital advancement. In one of these cases, a 7-year-old child fell on the device after discharge from the hospital and sustained a compound depressed skull fracture that required debridement and repair.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
4/38. Prenatal ultrasound diagnosis of frontonasal dysplasia.We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy.- - - - - - - - - - ranking = 2keywords = cleft (Clic here for more details about this article) |
5/38. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.- - - - - - - - - - ranking = 4.1601186372508keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
6/38. 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 = 4.1601186372508keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
7/38. Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.- - - - - - - - - - ranking = 4keywords = cleft (Clic here for more details about this article) |
8/38. acrocallosal syndrome: report of a Brazilian girl.We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.- - - - - - - - - - ranking = 1.3654063583866keywords = cleft, palate (Clic here for more details about this article) |
9/38. Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed.- - - - - - - - - - ranking = 1.3654063583866keywords = cleft, palate (Clic here for more details about this article) |
10/38. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis.A rare case of a 54-year-old man with pycnodysostosis having subtrochanteric fracture of right femur is being reported. This patient had this fracture after a trivial fall while walking. He had typical facial features, short stature, open fontenella, short stubby hands, high arched furrowed palate and radiological features including open cranial sutures, obtuse angle of mandible, dysplasia of lower end of radius and ulna, notching of lumbar vertebra and generalized skeletal sclerosis. The fracture was treated with an intramedullary nail; the surgery was quite a tedious procedure where we faced per-operative difficulty in reaming. The fracture united in 12 weeks. Extramedullary osteosynthesis might offer a better alternative in such patients as marrow is narrow but healing is normal.- - - - - - - - - - ranking = 0.36540635838658keywords = palate (Clic here for more details about this article) |
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