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One-stage correction of complex facial disproportion.

Patients with facial disharmony frequently have abnormal nasal form and disordered jaw relationships. Both orthognathic surgery and rhinoplasty are required to correct such facial disproportions. During a 10-year period 100 patients with a spectrum of indications have had concomitant orthognathic and rhinoplasty surgery by a team consisting of the same plastic surgeon, oral and maxillofacial surgeon, and orthodontist. Of this group 51 patients were operated on solely for aesthetic reasons, the majority being long face syndrome. All had a rhinoplasty usually with septal surgery. Depending on the deformity, the jaw surgery varied: 5 patients had mandibular surgery only, 12 had maxillary surgery alone, and the remaining 34 patients had both mandibular and maxillary procedures. Patients were followed for between 1 and 62 months by the plastic surgeon and for at least 2 years by the orthodontist. There was no orthognathic relapse or other major complications, but 4 patients required secondary minor nasal tip surgery under local anesthesia and 2 patients had persisting unilateral inferior alveolar nerve damage. Orthognathic surgery and rhinoplasty are not routinely performed concomitantly due to the difficulty in predicting the outcome of the soft-tissue relationships and increased morbidity. In this series, a one-stage approach was used to provide facial harmony. This reduces the overall surgical and anesthetic morbidity, inconvenience, and expense, and has resulted in good cosmetic and functional results. Therefore, it is suggested that with a competent team, orthognathic surgery and rhinoplasty can be performed concomitantly with dependable results and without significant complications.

Adolescent↗

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q and partial monosomy 20q and a review of the literature. CASE AND METHODS: Obstetric ultrasound at 33 weeks' gestation revealed intrauterine growth restriction (IUGR) and dolichocephaly in a 27-year-old primigravid woman. Prenatal cytogenetic diagnosis was not offered because of the late stage of gestation. A 2800-g male baby was delivered at 41 weeks' gestation by cesarean section because of fetal distress. The infant postnatally presented characteristic craniofacial dysmorphism, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. Cytogenetic analysis revealed an additional material attached to the terminal region of chromosome 20q. The parental karyotypes were normal. Spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and polymorphic DNA markers were used to investigate the origin of the de novo aberrant chromosome. RESULTS: SKY using 24-color probes, FISH using specific 16p, 16q, 20 centromeric, and 20q telomeric probes, and polymorphic DNA marker analysis confirmed maternal origin of the duplication of distal 16q and the deletion of terminal 20q. Karyotype of the proband was designated as 46,XY.ish der(20)t(16;20)(q22.1;q13.3)(SKY+,16qTEL+,20qTEL-). CONCLUSIONS: Partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter) may be associated with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and genetic marker studies help in delineating the parental origin and the regions of the deletion and duplication in the de novo unbalanced translocation.

Abnormalities, Multiple↗

[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].

PURPOSE: The Axenfeld-Rieger syndrome (ARS) shows genetic and morphologic heterogeneity and is associated with glaucoma in 50% of the patients. METHODS: Ocular, dental, and systemic anomalies, maximum intraocular pressure (IOPmax), frequency of ARS or glaucoma in the family history (FH), and age at diagnosis (AAD) of 26 consecutively examined patients with ARS and glaucoma or elevated IOP were evaluated retrospectively. RESULTS: In 65.4% of the patients hypoplasia of the iris was found. Almost 50% of the patients had systemic anomalies, dental anomalies being the most frequent. Of 26 patients, 12 (46.2%) had an ARS in the FH; 57.7% of the patients had a FH of glaucoma with or without ARS. No significant differences in IOPmax and frequency of iris hypoplasia and glaucoma surgery were found when patients with and without ARS in their FH and patients with and without iris hypoplasia were compared. CONCLUSION: Patients with iris hypoplasia and patients with ARS and/or glaucoma in the FH do not show a worse glaucoma prognosis than patients without iris hypoplasia or without a FH of glaucoma or ARS. ARS was diagnosed within the 1st year of life in approximately half of the patients. Therefore, children of ARS patients should be screened as soon as possible to improve early diagnosis of ARS and glaucoma and to improve glaucoma prognosis. As the dental and facial anomalies may require treatment in the first dentition, patients with ARS should be referred to a dentist or orthodontist.

Abnormalities, Multiple↗

[Clinical observation of cases operated in the Department of Oral and Maxillofacial Surgery, University of Erlangen-Nürnberg, in 1987-1988--especially cases of fractures and maxillofacial deformities].

In the Department of Oral and Maxillofacial Surgery, University Erlangen-Nürnberg, there were 1,140 cases operated during the period of one year between August 1987 and July 1988. Among them, 198 were fracture cases, 139 tumor cases and 88 deformity cases. As compared with Japan, there were many operations on fracture cases by the Steinhäuser mini-plate under general anesthesia and the time required for the intermaxillary fixation was generally 7-10 days while in Japan it was 5-6 weeks without the mini-plate. As for the time required for the postoperative intermaxillary fixation for maxillofacial deformity, it was usually 1 week after the operation by screw or mini-plate fixation of the bones while in most of Japanese institutions it was also 5-6 weeks after the operation by circumferential wiring fixation of the bones. The prognosis of the cases of fracture and maxillofacial deformity by short-period intermaxillary fixation was good. Short-period intermaxillary fixation by screw or mini-plate bone fixation is discussed by reviewing the literature on this study.

Bone Plates↗

Sleep disturbances detected by a sleep apnea monitor in craniofacial surgical patients.

Sleep apnea in craniofacial surgery was investigated. Between January 1999 and December 2003, 18 patients were measured at an at least 6-month interval before and after surgery. Eight patients underwent palatoplasty for cleft palate, and the other 10 patients underwent orthognathic surgery, syndromic craniosynostosis, and postpharyngeal flap surgery. All patients included in the study demonstrated clinical signs of obstructive sleep apnea, such as snoring and cessation of breathing during sleep. An apnomonitor was used for presurgical and postsurgical sleep apnea status by measuring: 1) position during sleep; 2) percutaneous oxygen saturation; 3) respiratory analysis, such as the type of apnea-hypopnea, frequency of the events, and duration of apnea-hypopnea; 4) heart rate; and 5) snore analysis, such as trains, time, mean, and minimal and maximal amplifications. The apnea-hypopnea index (AHI) was significantly improved after surgery, especially in cases other than palatoplasty (7.4 +/- 8.73/h and 1.6 +/- 0.43/h, before and after surgery, respectively; P < 0.05 excluding palatoplasty). The percentage of snoring to total sleep was also improved significantly (22.4 +/- 19.74% and 9.0 +/- 8.54%, before and after surgery, respectively; P < 0.01 in all patients). Therefore, changes in sleep apnea parameters were elucidated in craniofacial surgery. Palatoplasty did not necessarily worsen the sleep apnea status, although there were snoring and anatomic abnormalities. Detachment of the pharyngeal flaps improved sleep apnea, and bimaxillary advancement was effective in normalizing sleep apnea.

Adolescent↗

Orofaciodigital syndrome I: a case report.

Orofaciodigital syndrome I is a syndrome, which affects the maxillofacial region. Abnormally developed vestibular frenulum, cleft tongue, asymmetric cleft palate, pseudocleft of the upper lip and hypoplasia of the nasal cartilages are some of the other features. There are some malformations in foot and hand fingers and also mild mental deficiency is present. OFD I syndrome follows an chi-linked dominant mode of transmission trait limited to females and lethal in males. Because of the esthetic and functional manifestations in the maxillofacial region, the syndrome has great importance for pediatric dentistry.

Child↗

Abnormal anterior belly of the digastric muscle: a proposal for the classification of abnormalities.

We recognized an abnormal anterior belly of the digastric muscle in an 83-year-old male cadaver. Three muscle bundles were observed on the left anterior belly: (i) attached to the left digastric fossa; (ii) attached to the right digastric fossa; and (ii) attached to the raphe of the mylohyoid muscle. Four muscle bundles were recognized on the right anterior belly: (i) attached to raphe of the mylohyoid muscle; (ii, iii) attached to the exterior surface on the base of the mandible from the raphe of the mylohyoid muscle; and (iv) attached to the interior surface on the base of the mandible from the raphe of the mylohyoid muscle. The raphe of the mylohyoid muscle was curved significantly to right and the four abnormal bundles found on the right anterior belly (see above) were attached to its curved point.

Aged↗

Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.

A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism.

Adult↗

[Anatomic abnormalities within upper airways in patients with obstructive sleep apnea syndrome].

In order to determine a proper method of the treatment of Obstructive Sleep Apnea Syndrome (OSAS) it is essential to demonstrate anatomical abnormalities of upper airways. In this study we would like to estimate how often these anatomical abnormalities occur and what is their influence on OSAS severity. 113 patients underwent laryngological examination, the nasal structure, palate and pharynx were evaluated. The anatomical abnormalities of upper airways were found in 86% patients. The most frequent abnormalities found were nasal disorders, however they were not correlated with OSAS severity. Anatomical abnormalities in more than one level of upper airways were found in 50% of the patients and in those patients OSAS symptoms were the most severe. This may explain why the most frequently performed operations in OSAS patients are not very effective.

Comorbidity↗

The role of folic acid in oral clefting.

The objective of this study is to describe the role of periconceptional folic acid supplementation and assess it's potential in the prevention of foetal abnormalities, and consists of a review of the literature undertaken using an electronic and hand search. This includes research trials and methodology associated with folic acid supplementation. It is recommended that all women planning to conceive should supplement their diet with folic acid in order to prevent abnormalities in neural tube development, particularly if there is a history of a previously affected pregnancy. There is increasing evidence that folic acid supplementation may, in addition, reduce the incidence of oral facial clefting. Further research with multi-disciplinary approaches in biochemistry, genetics, gene/environment interactions, and embryology are indicated.

Cleft Lip↗

Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6Sey/Pax6Sey) mice.

Small eye (Pax6Sey) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defects within the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6Sey/Pax6Sey homozygotes, in a random-bred stock, had a median cartilaginous rod-like structure in the nasal region and 80% had supernumerary upper incisor teeth. In this study we show that supernumerary upper incisor teeth and a previously unreported nasal capsule-derived cartilaginous 'spur' occur in compound heterozygous Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey fetuses from several strains of mice. The frequencies of the abnormal phenotypes were not related to allele type but showed variable penetrance, which was dependent on genetic background. The median nasal cartilaginous rod-like structure was present in all homozygous small eye fetuses. The Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.

Animals↗

[Maxillo-facial abnormalities in Kearns-Sayre syndrome].

Three cases of Kearns-Sayre Syndrome are reported, in which some facial anomalies, including facial asymmetry, high forehead, wide nasal bridge, upturned nose, flat philtrum, low set ears and short neck were present. In two cases, the diagnosis of oxidative phosphorylation deficiency was confirmed by hystoenzymatic and genetic studies. The relationship of these facial anomalies with neural crest maldevelopment is emphasized and a classification of the Kearns-Sayre Syndrome as metabolic neurocristopathy is proposed. The facial anomalies are suggestive of an antenatal expression of the oxidative phosphorylation disease.

Adolescent↗

Oromaxillofacial osseous abnormality in Sturge-Weber syndrome: case report and review of the literature.

We report a case of a 17-month-old child affected by Sturge-Weber syndrome who had unusually rapid overgrowth of the left frontal, temporal, orbital, and maxillary regions. CT angiography illustrated osteohypertrophy with periostitis and associated soft tissue hypertrophy directly corresponding to the distribution of the cutaneous port-wine stain. Extended maxillectomy was performed because of rapid growth and clinical debilitation, with surgical pathology revealing juvenile ossifying fibroma.

Diagnosis, Differential↗

Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications.

Binder syndrome (BS) or maxillo-nasal dysplasia is an uncommon developmental anomaly affecting primarily the anterior part of the maxilla and nasal complex. The characteristic findings are a failure of development in the premaxillary area with associated deformities of the nasal skeleton and the overlying soft tissues. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite' (or class III malocclusion). A case of BS was diagnosed at 24 weeks of gestation using two- and three-dimensional ultrasound. The first sign was an isolated flattened fetal nose in the mid-sagittal plane. Further ultrasound imaging showed the absence of the naso-frontal angle, giving impression of flat forehead and small fetal nose. We discuss about this entity.

Adult↗

Are hearing and middle ear statuses at risk in Chinese patients undergoing orthognathic surgery?

Orthognathic surgery, which is performed to correct dentofacial abnormalities, has been associated with postoperative reduction in hearing sensitivity and middle ear dysfunction. In this study, the pre- and postoperative hearing status and middle ear function of 37 Chinese subjects who underwent orthognathic surgery, as well as subjective reports of aural symptoms, particularly hearing loss, tinnitus, fullness and otalgia, were investigated. There was a significant increase in the number of subjects with measured loss, perceived loss and aural fullness from pre-surgery to 1 week post surgery. However, the percentage of increase was small compared with previous findings. This difference in findings was attributed to the type of surgical techniques used, and to the fact that the Chinese population appears to be less susceptible to middle ear effusion. Subjective complaints of aural symptoms may not be accompanied by measured loss.

Adolescent↗

[Orthodontic treatment for adults].

The number of adults undergoing orthodontic treatment has increased strongly and the average age that adult patients undergo orthodontic treatment increased steadily although 3/4 is still younger than 27 years. In adults the facial skeletal pattern can only be changed in a very confined way, consequently in case of an abnormal skeletal pattern one has to choose between a combined orthodontic-surgical approach (which is the case in 18% of the patients) and a compromised orthodontic treatment, if necessary combined with other disciplines. It is still controversial whether tooth movement in adults is slower and more difficult than in adolescents. The same holds true for the risk for loss of periodontal support, for root resorption, for gnathologic problems and for relapse. As related to these variables there appears to be a large individual variation. Many adults show one or more problems in their dentition that may influence their orthodontic treatment. About 60% of the adult patients need a multidisciplinary approach. The development of implantology and of bone regeneration and bone grafting has lead to more combined treatments. The risks of such complex treatment plans are generally larger than those for more simple kinds of treatment. A very careful treatment planning and good communication between the different specialists is essential. Moreover the treatment plan with all its (dis)advantages has to be extensively discussed with the patient.

Adult↗

Probable case of Binder syndrome in a skeleton from Quarai, New Mexico.

Binder syndrome (maxillonasal dysplasia) is a not uncommon disorder reported in the clinical literature and is characterized by hypoplastic development of the midface. An extensive review of the paleopathology literature did not reveal any examples of Binder syndrome. In this paper, a probable case of Binder syndrome in a female skeleton, 16-17 years at age of death, from Quarai, New Mexico (ca. AD 1375-1450) is presented. This case was identified during standard documentation prior to repatriation at the National Museum of Natural History, Smithsonian Institution. The skull of this individual (381243) exhibits unusual facial features, including an underdeveloped midface, flattened glabella, absent nasal spine, and apparent alveolar prognathism, in addition to a vertebral anomaly. All of these characteristics are consistent with skeletal dysmorphologies associated with Binder syndrome. Measurements of the Quarai skull are compared with published data on Binder patients and normal control groups in order to quantify the nature of the observed morphology. Univariate analysis of craniometric/cephalometric data provides further support for a diagnosis of Binder syndrome, as critical measurements on the Quarai skull are consistent with those reported in Binder patients and significantly different from those reported for normal control groups. In addition to presenting a probable prehistoric case of Binder syndrome, this paper demonstrates the applicability of using direct comparisons of clinical data to help identify unusual conditions in skeletal remains.

Adolescent↗

[3-dimensional photogrammetry assessment of facial contours].

In Germany, three-dimensional non-invasive measurement techniques are not in routine use for medical purposes. Completely integrated applications of photogrammetric technology are lacking. The results of clinical examination, X-rays and pre- and postoperative photographs from different angles have been used for medical analysis. In an interdisciplinary research project we tested the general applicability of photogrammetric measurement systems. We examined patients with malformations of the mandible-maxilla complex by taking pictures of the face. In order to assess the surface structure we projected regular patterns onto the surface. We calculated about 500 points on the surface with accuracy better than 0.2 mm. Graphical analyses of measurement results are presented in clinically relevant form. We produce representations of the faces in auto-CAD by means of regular meshes which allow views from any perspective, longitudinal and lateral sections. In addition to calculating angles, distances, surfaces and volumes, visualisation of shape is a useful aid in documentation and quantification of changes of soft tissue of the human face under surgery treatment.

Adult↗