1/9. Bilateral Tessier no. 4 facial cleft with left eye anophthalmos: a case report.Craniofacial clefts are very rare and manifest in a variety of patterns. Tessier classified these clefts in 1973 and numbered them 0 to 14. Tessier No. 4 Facial cleft is a rare variant of craniofacial cleft. Not more than 50 cases are reported in world literature, amongst which only 5 cases are true bilateral in nature. However, combinations of two different variants are not very uncommon. A case of male Indian child aged 4 years with a true bilateral Tessier No. 4 Facial cleft is reported. He also had anophthalmos of the left eye. This is probably the first case in which true bilateral Tessier No. 4 Facial cleft with anophthalmos of one eye is noticed.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/9. 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.- - - - - - - - - - ranking = 2keywords = craniofacial (Clic here for more details about this article) |
3/9. A surgical conundrum: Tessier number 4 cleft.OBJECTIVE: Among the rarest of the craniofacial clefts is the Tessier no. 4 cleft; and hence little has been published about its management and treatment. Complete forms of the cleft yield poor surgical results because of the shortened oculoalar and oculo-oral distance and inadequate soft and bony tissue. Multiple sequential corrective operations are required. A primary early concern is the protection of the eye, particularly in severe forms in which corneal exposure occurs. This article presents two cases of Tessier no. 4 clefts, one unilateral and the other bilateral, and discusses the problems encountered during their surgical and postoperative managements.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/9. 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.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/9. Distraction osteogenesis in the craniofacial skeleton.Bone deficiency in the craniofacial skeleton has posed a challenge to craniomaxillofacial surgeons for many decades. Sliding osteotomies and bone grafting have been traditional staples for correcting bone deficiency. In recent years, especially with the advent of newer devices, mechanically induced growth of bone and soft tissue has be-come a major tool in the correction of bony deficiency of the skull and face. In this article, the authors discuss the physiology and technique of distraction osteogenesis, or mechanically induced growth,for the correction of congenital and acquired facial deformities.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
6/9. Klippel-Trenaunay syndrome.Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by triad of vascular nevi, venous varicosities and hyperplasia of soft and hard tissues in the affected area. This syndrome usually affects the extremities but occasionally can manifest in the craniofacial region, including the oral cavity. We report a case of KTS and discuss the oro-surgical and dental considerations regarding hemorrhagic tendencies caused by the known local anomalies such as vascular malformations associated with this syndrome as well as systemic abnormalities.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
7/9. 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.- - - - - - - - - - ranking = 6keywords = craniofacial (Clic here for more details about this article) |
8/9. Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs.Cranium bifidum occultum is a rare skull ossification disorder referred to as the Catlin mark characterized by ossification defects in the parietal bones. Evidence suggests that this condition has a strong genetic heterogenicity. It is believed that, as calvarial growth continues, ossification in parietal bones fills these defects, and they can remain as parietal foramina on either side of the sagittal suture. During the conversion phase of cranium bifidum to the persistent parietal foramen, there will be periods when the brain is unprotected because of the delay in the ossification of the parietal bones. This report describes cranium bifidum occultum diagnosed as an incidental finding in a 14-year-old boy who initially had large bilateral unossified parietal bones and many congenital abnormalities. The patient underwent various surgical procedures over 6 years for the correction of cleft lip and palate. With craniofacial corrections and orthodontic treatment, the patient now has stable dentition and a firm palate with most of the parietal bones ossified. Cranioplasty was not recommended by his family physician after consultation with a neurosurgeon. Orthodontists should be familiar with this genetic abnormality because it causes delay in parietal bone ossification, and they should be able to distinguish between anatomic parietal foramina and enlarged parietal foramina (persistent unossified areas of cranium bifidum occultum), especially when craniofacial abnormalities are noticed.- - - - - - - - - - ranking = 2keywords = craniofacial (Clic here for more details about this article) |
9/9. prenatal diagnosis: evolution in craniofacial surgery.prenatal diagnosis of craniomaxillofacial malformations permits early surgery, before 6 months of life and possibly, in the near future, in utero, thereby obtaining the best aesthetic and functional results. Increased knowledge of embryology has largely improved the diagnosis of craniomaxillofacial anomalies, their classification, and therapeutic protocols. We analyzed nine pregnancies (one twin) in which cleft lip and palate (CLP)--isolated or associated with, for example, holoprosencephaly, hypertelorism, and micrognathia--was diagnosed by ultrasonography. Only one fetus of these pregnancies was later operated on in our unit. This patient, with 7 years follow-up, represents our clinical case. For these cases, early diagnosis of CLP allowed informed parental choice regarding the continuation or termination of the affected pregnancy and planning of surgical procedures to correct the malformation. This is demonstrated by the presented clinical case involving an infant operated on within 6 months with success.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |