Clinical outcomes of prenatal diagnosis of the fetal micrognathia: A case report.

产前诊断胎儿小颌畸形的临床结局: 病例报告。

  • 影响因子:1.95
  • DOI:10.1097/MD.0000000000018648
  • 作者列表:"Lu JW","Lu D","Zhang XL","Bai J
  • 发表时间:2020-01-01

RATIONALE:Micrognathia is a subtle facial malformation characterized by a small mandible and receding chin. Fetal micrognathia is often associated with chromosomal abnormalities, skeletal dysplasia, and various syndromes. Once it is dignosised, detailed fetal malformation screening and chromosome examination should be carried out. PATIENT CONCERN:One pregnant woman with suspicion of fetal micrognathia was referred from her local hospital to our hospital for detailed fetal malformation screening and fetal echocardiography. Examination of the fetus was performed using a two-dimensional and three-dimensional ultrasound probe in multiple planes. The fetus showed micrognathia without glossoptosis with features of the inferior facial angle (IFA) ≤50° and his tongue reached anterior mandibular border box during normal movement. DIAGNOSES:The fetus was diagnosed as isolated micrognathia prenatally without multisystem abnormalities. INTERVENTIONS:Amniocentesis was performed and the fetus was found to carry 46XN with 6q14.1 duplication, the significance of which was unclear. OUTCOMES:The fetus was labored through vagina at 38 weeks gestation. A small soft cleft palate was diagnosed after delivery. LESSONS:This case suggests that once prenatal diagnosis of the fetal micrognathia has been made, we should carefully examine the presence of fetus's multisystem developmental abnormalities and due consideration should be given for associated soft cleft palate.


原理: 小颌畸形是一种细微的面部畸形,其特征是下颌骨较小,颏部退缩。胎儿小颌畸形常与染色体异常、骨骼发育异常和各种综合征有关。一旦剥离,应进行详细的胎儿畸形筛查和染色体检查。 患者关注: 1 例疑似胎儿小颌畸形的孕妇,由其当地医院转诊至我院进行详细的胎儿畸形筛查及胎儿超声心动图检查。使用二维和三维超声探头在多个平面内进行胎儿检查。胎儿表现为小颌畸形,无舌质下垂,特征为面下角 (IFA) ≤ 50 °,正常运动时舌达下颌前缘盒。 诊断: 胎儿产前诊断为孤立性小颌畸形,无多系统异常。 干预措施: 行羊膜腔穿刺术,发现胎儿携带 46XN,重复 6q14.1,其意义不清楚。 结局: 孕 38 周胎儿经阴道分娩。产后诊断为小软腭裂。 教训: 这个案例表明,一旦胎儿小颌畸形得到产前诊断,我们应该仔细检查胎儿多系统发育异常的存在,并对伴有软腭裂给予适当的考虑。



作者列表:["Denadai R","Seo HJ","Lo LJ"]

METHODS:BACKGROUND:The anterior oronasal fistulae neighboring the alveolar cleft could persist or reappear after the alveolar reconstruction with cancellous bone grafting. The persistent symptomatic anterior oronasal fistulae need to be repaired, but surgery remains a challenge in cleft care. Surprisingly, this issue has rarely been reported in the literature. The purpose of this long-term study was to report a single surgeon experience with a therapeutic protocol for persistent symptomatic anterior oronasal fistula repair. METHODS:This is a retrospective study of consecutive patients with Veau type III and IV clefts and persistent symptomatic anterior oronasal fistulae managed according to a therapeutic protocol from 1997 to 2018. Depending on fistula size, patients were treated with local flaps associated with an interpositional graft or two-stage tongue flaps (small/medium or large fistulae, respectively). The surgical outcomes were classified as "good" (complete fistula closure with no symptoms), "fair" (asymptomatic narrow fistula remained), or "poor" (failure with persistent symptoms). RESULTS:Forty-four patients with persistent symptomatic anterior oronasal fistulae were reconstructed with local flaps associated with interpositional fascia or dermal fat grafting (52.3%) or two-stage tongue flaps (47.7%). Most of patients (93.2%) presented "good" outcomes, ranging from 87% to 100% (local and tongue flaps, respectively). Three (6.8%) patients presented symptomatic residual fistula ("poor" outcomes). CONCLUSIONS:For the repair of persistent symptomatic anterior oronasal fistulae, this therapeutic protocol provided satisfactory outcome with low fistula recurrence rate.

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作者列表:["Cleary B","Loane M","Addor MC","Barisic I","de Walle HEK","Matias Dias C","Gatt M","Klungsoyr K","McDonnell B","Neville A","Pierini A","Rissmann A","Tucker DF","Zurriaga O","Dolk H"]

METHODS:OBJECTIVE:Methadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS. DESIGN/SETTING:This case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995-2011. PATIENTS:Cases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks' gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview. RESULTS:Among 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1-12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2). CONCLUSIONS:These findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk-benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.

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作者列表:["Jahanbin A","Eslami N","Torkamanzadeh N"]

METHODS::Orthopedic treatment to improve deficient maxillary growth of cleft lip and palate patients is an important part of treatment. The success of this treatment is strongly dependent on the time of initiation of therapy. There has been a large controversy in the available literature regarding the skeletal age of these patients. The aim of the present study was to compare the skeletal age of cleft lip and palate patients with normal individuals.37 unilateral and 14 bilateral cleft lip and palate patients and 47 healthy individuals participated in this cross-sectional study. The patients were classified into 8 to 10 and 11 to 14-year-old individuals. Cervical vertebral maturational stage of participants was evaluated in the lateral cephalometry. The skeletal age of cleft lip and palate patients was compared with normal controls. Chi-square was used for statistical analysis. There was not a significant difference in the skeletal developmental stage of unilateral and bilateral cleft compared to their normal peers according to their age and sex. Also, significant difference in skeletal maturational stage of cleft lip and palate patients was not found between boys and girls (P = 0.8). Similarly, no significant difference was found in the skeletal age of the 3 studied groups without considering the age and sex of participants (P = 0.5). Regarding the similar skeletal maturational stage of cleft lip and palate patients with normal controls in our study, their maxillofacial orthopedic treatment can be initiated at similar time to normal peers.

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