1/9. Midline cleft. Treatment of the bifid nose.BACKGROUND: Midline facial clefts are rare deformities with a wide range of clinical findings from a simple midline vermillion notch to major skeletal malformations, including orbital hypertelorism. The bifid nose is a relatively uncommon malformation that is frequently associated with hypertelorbitism and midline clefts of the lip. The presentation of a bifid nose ranges from a minimally noticeable midline nasal tip central groove to a complete clefting of the osteocartilaginous framework, resulting in 2 complete half noses. We describe our experience with 2 patients with midface clefts who presented with bifid noses and a variety of other congenital abnormalities. The anatomy, extensive treatment, and complications of the bifid nose are discussed. DESIGN: Retrospective case review and literature review. RESULTS: Successful creation of an aesthetic nasal contour and normal nasal function was achieved without complication via extensive skin, bony, and cartilaginous resection. CONCLUSIONS: The bifid nose challenges the rhinoplasty surgeon. A successful outcome is dependent on a thorough understanding of the bifid nasal anatomy, proper patient evaluation, careful preoperative planning, and meticulous surgical technique.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/9. Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/9. Partial duplication of the face: case report and review.Complete or partial facial duplication is a rare congenital malformation. A spectrum of structural abnormalities varying in degrees of severity has been described in affected individuals. We present discordance for facial duplication between monozygotic twins in which maxillary and mandibular duplication was present in one. The involved twin showed the following findings: ocular hypertelorism, bifidity of the nose, duplication of the maxilla, macrostomia, cleft of the lower lip, hamartoma of the vomer, supernumerary teeth, duplication of the mandibular teeth, bifidity of the tongue, and hamartoma of the floor of the mouth. Surgical management of the facial anomalies is discussed. A review of the literature and discussion of this rare malformation are presented.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/9. cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/9. Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications.The anaesthetic management is described of a nine-month-old male for surgical palliation of the the functional abnormalities associated with Opitz-Frias syndrome. Features of this syndrome of interest to anaesthetists include recurrent pulmonary aspiration of intestinal contents, achalasia of the oesophagus, subglottic stenosis, hypertelorism, micrognathia and a high arched palate. No previous reports of anaesthesia for patients with this condition have been identified.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/9. Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/9. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects.We reported on a Japanese boy similar to the patients previously reported by Malpuech et al. (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects. This is probably the second case report of Malpuech facial clefting syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/9. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/9. A female patient with partial duplication 22 (q13-->qter).We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of wolf-hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |