1/79. Maxillary distraction for the management of cleft maxillary hypoplasia with a rigid external distraction system.Maxillary hypoplasia is a common finding in patients with repaired orofacial clefts. Management of this condition has been a challenge to the reconstructive team. The introduction of distraction osteogenesis to treat craniofacial skeletal dysplasias has opened alternative approaches to manage these severe conditions. In this article, the authors present their technique to distract the hypoplastic cleft maxilla using a rigid external distraction device. The clinical assessment, indications, orthodontic procedure, surgical technique, and distraction protocol are reviewed. A case report shows the use of the technique. This technique allows the reconstructive team to treat patients in all age groups with predictable and stable results.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/79. Working with parents to promote health.A cleft lip, with or without cleft palate, is the most common craniofacial malformation. The issue of whether health can be attained if the person has a physical defect is discussed. health education can be considered as a means whereby individuals learn to maintain, restore and promote health. Consideration is given to health promotion and the prevention of ill health in relation to infant feeding. Skill teaching, if successfully completed, may be regarded as a fundamental cornerstone to health promotion.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/79. Spheno-pharyngeal meningocele and cleft palate. Case report with 12-year follow-up.A rare congenital anomaly consisting of a spheno-pharyngeal meningocele and cleft palate is presented. The repair of the meningocele was accomplished through an intra-oral transpalatal approach. A primary pharyngeal flap was used to accomplish the repair of the cleft palate. Fortunately, there were no important anomalies of the central nervous system. Twelve years later, the patient functions normally and speaks well. The only remaining symptom of midline craniofacial dysmorphia is a mild hypertelorism.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/79. Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to learning difficulties, hypernasal speech and mild dysmorphic features, had weakness and wasting of the shoulder girdle muscles but no cardiac involvement. brain magnetic resonance imaging revealed narrowing of the cervicomedullary junction. The clinical features of this patient with velocardiofacial syndrome further expand the spectrum of abnormalities associated with this condition.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/79. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/79. 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
7/79. A rare craniofacial cleft: bilateral Tessier no. 5 cleft accompanied by no. 1 and no. 6 clefts.A case of facial cleft that fits the anatomic description of the rare bilateral Tessier no. 5 cleft accompanied by unilateral no. 1 and no. 6 clefts is presented, and brings the total number of reported cases to 21. This case and a review of the literature help to define the soft-tissue and bony course of these clefts, and also emphasize the role of three-dimensional computed tomography to show the bony cleft route. The diagnosis and treatment plan of the no. 5 cleft as well as other rare clefts such as no. 1 and no. 6 clefts are discussed.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
8/79. MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
9/79. Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.- - - - - - - - - - ranking = 2keywords = craniofacial (Clic here for more details about this article) |
10/79. cleft palate in a patient with Williams' syndrome.cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
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