先天性小耳畸形危险因素研究进展

先天性小耳畸形即小耳症,主要指耳廓、外耳道的畸形、听力损害等,少数患者合并外耳道闭锁、中耳及面部畸形。尽管先天性小耳畸形的发病机制尚未完全明确,但已有研究证实其发生可能与环境和遗传因素有关。因此,对于相关流行病学调查的相关因素与风险因素的研究与规避,并以此指导开展针对性防治工作显得尤为重要。本文将从流行病学特征及相关危险因素两个方面对于病因学进行探讨与总结。     

Congenital isolated absence of the nasal columella: reconstruction with an internal nasal vestibular skin flap and bilateral labial mucosa flaps

Congenital aplasia of the nasal columella is a very rare anomaly. The deformity is characterized by the isolated absence of the columella from the nasal tip to the root of the philtrum, including the medial crura of the alar cartilages; surrounding structures such as the septum, nose, and upper lip are normal. To the best of our knowledge, only four such cases have been described to date. The embryopathogenesis for this uncommon disease is presently unknown. Our report describes a 14-year-old girl with congenital agenesis of the columella as an isolated anomaly. Her family history was positive for the presence of the same congenital deformity, which also affected her older brother; there was, however, no consanguinity between the parents. The columella defect was reconstructed with an internal nasal vestibular skin flap and bilateral upper labial mucosa flaps. There are many techniques available to repair columella defects, including free grafts from the ear, local flaps from the forehead, face, upper lip, and nose, distant flaps such as tube pedicle flaps, and free flaps from the ear. Each of these techniques has advantages and disadvantages. Because of this, the treatment of columella defects should be individualized.     

Computed tomography of the temporal bones in children with developmental anomalies of the external and middle ear]

Computed polypositional high-resolution tomography (CT) was provided to 45 children with dysplasia of the external acoustic meatus (EAM). The computed tomograms were analyzed in accordance with the scheme which included the evaluation of the following structures: atresia or stenosis area, pneumatized mastoid process, tympanic cavity, ant rum, osteal opening of the Eustachian tube, chain of auditory ossicles, windows of the labyrinth, internal ear, facial nerve canal, and large vessels. Preoperative CT of the temporal bones allows for the evaluation of the above-listed structures, which is of paramount importance for the planning of the patient management policy. Also, CT enables the assessment of the risk of surgical intervention associated with a potential injury to the facial nerve, large vessels, and temporomandibular articulation. CT is to be an indispensable diagnostic modality for examination of children presenting with EAM dysplasia.     

Habilitation of Patients with Congenital Malformations Associated with Thalidomide: Pediatric Aspects

Since November 1961 it became apparent that the administration of thalidomide to pregnant women was associated with the occurrence of severe congenital anomalies. These deformities are frequently symmetrical, involving the limbs, particularly the proximal part, and associated with an absent external ear, mid-line facial hemangioma with saddle nose, atresia of the bowel and other congenital anomalies. Care of these children is a complicated problem requiring a team of specialists of many disciplines, particularly a pediatrician, an orthopedic surgeon, a prosthetic specialist and a social worker. Treatment by such a team ideally would commence immediately after delivery of the infant and continue until the child has been totally habilitated. Such care ideally should be provided within existing services in the country for the habilitation and rehabilitation of handicapped children.     

Oculo-facio-cardio-dental syndrome in a girl and her mother

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.     

Perceived functional impact of abnormal facial appearance

Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial appearances. Facial deformity caused by trauma, congenital disabilities, and postsurgical sequelae present with significant adverse functional consequences. Facial deformities have a significant negative effect on perceptions of social functionality, including employability, honesty, and trustworthiness. Adverse perceptions of patients with facial deformities occur regardless of sex, educational level, and age of evaluator.     

Abnormalities of the Urinary Tract in Association with Congenital Cardiovascular Disease

The incidence of urinary tract abnormalities in a group of infants and children with congenital cardiovascular disease was determined by assessing roentgenograms of the abdomen taken following angiocardiographic studies. The urinary tracts of 400 of these patients were so outlined, but in 50 others the tracts could not be outlined. In 21 of the latter the urinary tracts were assessed at autopsy.Of these 421 children, nine (approximately 2%) had serious urinary tract disease, and 15 (approximately 3.5%) had anomalies which were of no clinical significance.The incidence of four renal anomalies—bifid collecting system, rotated kidney, horsehoe kidney and ectopic kidney—was compared with that in another group of patients without cardiovascular disease. No significant difference was found in the incidence of these four anomalies in the two groups.     

Analysis and treatment of hemifacial microsomia

Our experience over the past 25 years leads us to conclude that hemifacial microsomia is a progressive skeletal and soft-tissue deformity with the earliest skeletal manifestations in the mandible. We find that not only does the mandibular asymmetry become worse with time, but as the contralateral side grows, the deformed mandible also increases ipsilateral secondary deformation of the maxilla, nose, and orbit. We also find that there is virtually no "catch up" growth on the affected side of the face and that these patients always become more deformed with age. The psychological problems also increase with time and progression of the facial deformity. Based on our experience with correction of end-stage deformities, we now treat these patients at the earliest possible age, as determined by the patient's skeletal classification. We treat the mandible first in the hope that this repositioning in a more physiologic position will unlock the growth potential of the adjacent structures, minimize secondary deformity, and improve function and appearance to the greater benefit of the skeletal and psychological growth of the patient.     

Asymptomatic Bacteriuria in Girl Entrants to Dundee Primary Schools

During the statutory medical examination on entrance to primary school 943 5-year-old girls were screened for asymptomatic bacteriuria. A prevalence of 2·1% was found. None of the 20 children with asymptomatic bacteriuria was recognized by the parents as having a urinary infection, though 14 of them had symptoms of lower urinary tract infection. In 16 of the children with bacteriuria either the intravenous pyelogram or the micturating cystogram was abnormal. In 12 the height and weight were below the 25th percentile, and in this group the most severe radiological changes were found.Though the significance of asymptomatic bacteriuria is unknown, these results confirm that in this age group it is often associated with a urinary tract abnormality.     

Retrospective study of children with renal scarring associated with reflux and urinary infection.

OBJECTIVE--To review the histories of children with bilateral renal scarring and severe vesicoureteric reflux to determine whether an improvement in early management might reduce the risk of scarring. DESIGN--Retrospective study of medical records and discussion with parents. SETTING--Outpatient departments of two teaching hospitals. PATIENTS--52 children aged 1-12 years participating in a randomised comparison of medical and surgical management. All had a history of symptomatic urinary tract infection. Two thirds presented with fever and two with hypertension or renal failure. In only one out of 32 children examined by antenatal ultrasonography was an abnormality suspected. RESULTS--There was delay in diagnosis or appropriate imaging or effective treatment of urinary infection in 50 of the 52 children. In 41 there was delay in diagnosis; there was delay in treating a confirmed infection in 45; no antibacterial prophylaxis was prescribed before imaging in 28; and investigation of the urinary tract was delayed in 33. The severity of scarring was significantly related to delay in diagnosis (chi 2 for trend 7.43, P = 0.01). Four children of mothers known to have reflux nephropathy were not investigated until they developed urinary tract infection. CONCLUSIONS--Efforts to reduce the incidence and severity of renal scarring should be directed towards rapid diagnosis and effective early management of urinary tract infection in infancy and childhood. Siblings and offspring of known patients with severe reflux nephropathy should be investigated for reflux.     

Study of Childhood Urinary Tract Infection in General Practice

A study of bacteriuria was conducted among 426 of the 436 children under the age of 13 in a general practice in north-west London. Three girls and one boy were found to have asymptomatic bacteriuria, and a further girl with bacteriuria presented with abdominal pain and fever. The calculated incidence of urinary tract infection was 1·4% per annum. Most of the childhood urinary infections in this practice occurred before the age of 5 years, and the incidence of significant bacteriuria in this age group was 4·9% per annum. Five other children (four girls and one boy) in the practice were known to have had proved urinary tract infection. Of the total of eight children known to have had significant bacteriuria and investigated radiologically, three girls and two boys had radiological abnormalities in the urinary tract.Pyuria and proteinuria did not prove to be useful in the prediction of asymptomatic bacteriuria. Urinary tract infection with renal tract abnormality was found in this practice to be at least five times as common as diabetes in childhood.     

Genetics of Vesicoureteral Reflux

Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition in children.     

Anatomical observations of holoprosencephaly in swine

In a study of swine congenital anomalies, nine newborn piglets with varying degrees of optic hypotelorism including cyclopia were collected. Nasal and maxillary development were abnormal in all animals regardless of the degree of eye fusion. All animals except one had intact upper lips and hard palates that carried two or three small extopic teeth. The "snout" was only a medial wedge-shaped rudiment projecting from the upper lip. It was distally covered by a typical snout-like glabrous epithelium and carried small vibrissae. Six animals also had a tubular proboscis dorsal to the eye. The distal tip of the proboscis was covered by glabrous epithelium. External nares and nasal passageways, albeit blind-ended, were prominent in the proboscis. The nasofrontal bones projected into the base of the proboscis. Seven piglets were hairless except for fine vibrissae and some eyebrow hairs. All animals had some degree of ear abnormalities, e.g., malposition and absence of external auditory meatus. In all animals the brain was malformed. This abnormality varied from complete absence of the forebrain to an alobar structure with gyri. The remainder of the body of each animal was normal. Developmental anomalies of the nose and eye generally reflect malformations of the forebrain, although the etiology of these defects is unclear. The cyclopia associated with the medial proboscis suggests that both the telencephalon and diencephalon are dysplastic. The presence of glabrous epithelium in two regions on the face suggests that studies of the development of the midline face in the swine will help to elucidate the etiology of the holoprosencephalic series. In this way the pig may prove to be an excellent modeling system for human holoprosencephaly.     

Urodynamic biofeedback treatment of urinary incontinence in children with myelomeningocele

Eight children with myelomeningocele and chronic neurogenic urinary incontinence were provided urodynamic biofeedback training. During urodynamic biofeedback, six of the eight children demonstrated improved self-regulation of detrusor and/or sphincter functioning. However, substantial improvements in clinical symptomatology (i.e., urinary incontinence) were clearly shown by only one child. Unexpectedly, chronic neurogenic fecal incontinence was reduced in four children. Several methodological modifications are discussed which may improve clinical symptomatology and which may facilitate further urodynamic biofeedback research for these children with congenital neurogenic urinary incontinence.     

Neonatal outcome of fetuses with urinary tract abnormalities diagnosed by prenatal ultrasonography.

Between 1979 and 1986 an abnormality of the urinary tract was diagnosed by prenatal ultrasound examination in 93 fetuses. Postnatal investigation at a large teaching hospital showed a definite abnormality in 85 infants, 66 of whom were boys. An obstructed urinary tract, usually requiring surgery, was present in 46 infants. Other abnormalities included a multicystic kidney (in 15 infants), vesicoureteric reflux (in 9), prune-belly syndrome (in 5) and polycystic kidneys (in 5). Early recognition and treatment of urinary tract disorders in infants should be accompanied by informed prenatal counselling to minimize parents'' anxiety.     

先天性小耳畸形手术治疗的研究进展

先天性小耳畸形是发病率较高的头面部畸形之一,常为耳廓及中耳腔同时存在,内耳发育不良相对少见,这一疾病所致的缺陷不仅影响到患者的容貌,更重要的是导致患者听觉功能的障碍,严重影响到患者的日常工作学习和生活。部分患者还伴有或多或少的心理影响,这在双侧小耳畸形的患者中更多见。手术是其主要的治疗方法,要求不仅重建外形正常的耳廓,同时还拥有正常或接近正常的听力。外耳廓再造和听力重建手术不仅使先天性小耳畸形患者的耳部外观明显改善,还能使其听觉功能进一步提高。本文主要综述了先天性小耳畸形的病因和流行病学、分类、手术时机和方式的选择、听力重建、耳廓再造的方法及组织工程学耳再造技术,重点介绍了耳廓再造材料的选择及手术注意点,以期为先天性小耳畸形的临床治疗提供更多理论依据。     

A review of 35 cases of asymmetric crying facies

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.     

Temporomandibular malformations in the bonnet monkey (Macaca radiata) fetus following maternal ingestion of thalidomide

Structural abnormalities of the temporomandibular region were seen and described in the fetal bonnet monkey (Macaca radiata) after maternal ingestion of thalidomide. A single oral dose of 10 mg/kg of thalidomide was given on day 24, 25, 26, 27, 28 or 29 or 30 mg/kg on day 25 or 28 of gestation to 25 pregnant monkeys (day of mating = 0). The skeletons, processed and stained with alizarin red S, were examined for gross changes in configuration of craniofacial bones. Temporomandibular defects, in varying severity, were seen in four 70-day-old and seven 100-day-old fetuses associated with a single treatment between day 24 and day 28. The highest risk appeared to occur following treatment on day 25 (4/5) and the lowest on day 28 (2/8). Characteristic expression of the defects included 1) temporo-zygomatic hyperplasia involving the articular tubercle and postglenoid process and 2) mandibular hypoplasia, primarily of the condyles and the angular and coronoid processes. Micrognathia, apertognathia, and partial extraarticular ankylosis were seen. Although the sensitivity periods of the temporomandibular and ear regions seem to overlap and the embryonic origins are similar, the defects of each region appeared to be independent. Although the ear demonstrated a definite temporal relationship characterized by a decrease in severity in the expression of the ear malformations with respect to increased gestational age at the time of thalidomide insult, the temporomandibular region failed to exhibit a specific pattern. Although the temporo-zygomatic hyperplasia was dissimilar to any reported human condition, the mandibular changes were similar.