First branchial cleft anomaly, a case for misdiagnosis

First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.     

Prenatal 3D sonographic diagnosis of an isolated lateral facial cleft

We report a case of lateral facial cleft (Tessier 7) diagnosed by sonography at a gestational age of 24 weeks. Two-dimensional sonography revealed a fetus appropriate for gestational age without obvious anomaly, but a three-dimensional sonogram with surface mode rendering showed asymmetrical macrostomia as a result of a left lateral facial cleft. Our case highlights the advantage of using three-dimensional sonography in the prenatal diagnosis of lateral facial clefts.     

胎儿唇腭裂畸形的产前超声诊断现状

胎儿唇腭裂是最常见的颜面部畸形,且与妊娠结局,附加结构畸形及染色体异常均明显相关,然而产前诊断困难.超声是最常用的检测手段,通过胎儿标本实验及胚胎发育研究,使用二维超声的冠状切面和轴向切面及三维超声重建可诊断唇裂及前腭裂,对于继发腭裂,主要是寻找间接征象,直接显像困难,因此尚不能在宫内作出诊断.     

Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency.

We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. Karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. Trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.     

Fryns syndrome: case report and review of the literature

Fryns syndrome (FS) is a rare malformation. We report a case of FS referred to our clinic at 27 weeks' gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed a left-sided diaphragmatic hernia, pulmonary hypoplasia, and a median orofacial cleft. The diagnosis of FS was made after exclusion of chromosome aberrations and delivery of the fetus. Macroscopic inspection revealed a coarse face (hypertelorism and broad and flat nasal bridge, anteverted nostrils, median cleft lip/palate, poorly shaped auricles with attached earlobes, facial hirsutism), a narrow thorax, nail hypoplasia, and hypoplastic, widely spaced nipples.     

Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.     

提高产前超声诊断胎儿唇腭裂效率的方法

目的 分析临床病史结合唇腭部常规三切面、上牙槽突横切面、其他特殊切面与三维超声配合胎儿不同体位对提高产前超声诊断胎儿唇腭裂效率的协助作用。 方法 对我院2014年9月~2016年12月7000例中孕期（孕20~24+6周）胎儿行颜面部超声筛查,超声检查前常规询问病史,以规范化常规三切面、上牙槽突横切面作为筛查切面,有异常时应同时采集胎儿张口时和闭口时的二维图像,最后采集三维图像,与引产或分娩后患儿颜面部结果进行对照,比较各种方法对提高产前超声诊断唇腭裂畸形的效率与准确率的作用。 结果 7000例胎儿超声共检出唇腭裂27例,经引产和分娩证实唇腭裂29例,其中常规三切面组检出胎儿唇腭裂畸形20例,产前超声漏诊9例,超声诊断符合率为69%;常规三切面、上牙槽突横切面、其他特殊切面加三维超声组产前超声检出胎儿唇腭裂畸形27例,产前超声漏诊2例,产前超声诊断符合率为93%;对比两种方法在唇裂合并腭裂病例存在显著性差异（P<0.05）。 结论 超声医师检查前常规采集病史,检查时准确识别胎儿唇鼻部腭部正常结构和声像图特征,掌握常规三切面、上牙槽突横切面和其他特殊切面的手法和技巧,仔细观察胎儿唇鼻结构和张口闭口运动,同时应用三维超声表面成像模式,将会提高唇腭裂畸形的超声诊断率,给临床医生及孕妇提供可靠的信息。       

经前囟侧脑室横切面尾侧偏斜法在11~13+6周胎儿颜面部筛查中的应用

目的总结早孕期（11~13^{+ 6}周）胎儿颜面部异常超声声像图特征,分析颈项透明层（NT）增厚与颜面部异常相关性。 方法对2008年10月至2012年12月在深圳市妇幼保健院产前检查的10 518例胎儿行早孕期常规NT测量和经前囟侧脑室横切面尾侧偏斜法颜面部扫查,与活产儿产后检查或引产胎儿尸检结果对照,对早孕期颜面部异常胎儿的超声图像特征、NT增厚与颜面异常相关性进行总结和分析。 结果10 518例胎儿产前超声检查结果：运用经前囟侧脑室横切面尾侧偏斜法早孕期超声检出颜面部结构正常胎儿10 343例（98.3%,10 343/10 518）,颜面部异常28例（唇腭裂8例、鼻骨缺失14例,全前脑面容5例,不规则面裂1例）;引产或出生后检查及随访证实胎儿颜面部异常49例（发生率0.47%,49/10 518）,早孕期超声漏诊21例（唇腭裂11例,耳异常7例,小下颌2例,不规则面裂1例）;中孕期超声补充检出颜面部异常11例（唇腭裂10例,不规则面裂1例）;产前超声共检出颜面部异常39例（79.6%,39/49）;超声检查后失访126例。49例颜面部异常胎儿合并NT增厚和其他超声软指标异常34例（69.4%,34/49）,其中合并NT增厚23例（46.9%,23/49）,合并其他结构异常22例,合并染色体异常2例。颜面部异常与NT增厚相关性：本组超声检出颜面部异常合并其他结构异常的胎儿NT平均测值[（4.7±3.1）mm]>单纯颜面部异常胎儿[（2.0±1.6）mm]>正常胎儿[（1.8±0.4）mm],表明颜面部异常与NT增厚有一定相关性。 结论经前囟侧脑室横切面尾侧偏斜法是早孕期诊断胎儿颜面部异常准确、可靠的检查方法,早孕期发现胎儿全前脑、心脏异常、结构畸形伴NT增厚,应仔细检查有无颜面部异常,并于中孕期补充检查以减少漏诊。唇腭裂表现为鼻后三角形态改变,侧脑室横切面、正中矢状切面及双眼球冠状切面的改变则为全前脑面容的表现。     

First branchial groove anomaly

First branchial groove anomalies are very rare. We report a case of a first branchial groove anomaly presented as an infected cyst in an 11-month-old child. Management of such lesions is complicated because of their close association with the facial nerve. Surgical management must include identification and protection of the facial nerve. Embryology and facial nerve disposition in relation to the anomaly are reviewed.     

胎儿畸形的产前超声诊断分析

【目的】探讨产前超声对胎儿畸形的诊断价值。【方法】对2005年1月至2009年12月共15734例中晚期孕妇进行超声筛查,观察胎儿畸形的声像图特征,对胎儿畸形进行诊断。【结果】发现296例胎儿畸形（1．88％）,其中神经系统畸形86例（29．05％）,泌尿系畸形46例（15．54％）,唇腭裂34例（11．49％）,胎儿先天性心脏病32例（10．81％）,前腹壁异常25例（8．45％）,颈部水囊瘤20例（6．76％）,骨骼系统畸形18例（6．08％）,消化系统畸形17例（5．74％）,胎儿腹腔囊肿12例（4．05％）,先天性膈疝4例（1．35％）,联体双胎2例（0．67％）,与产后及引产后对照,诊断符合率97％。【结论】产前超声检查对诊断胎儿畸形有着重要价值,是其产前诊断的首选方法。     

A delayed diagnosis of congenital midline cervical cleft

Congenital midline cervical cleft (CMCC) is an extremely rare anomaly of the neck that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple‐like projection. We present the management of this uncommon and rarely described entity in a 9‐year‐old girl.     

Axial ultrasonographic imaging of the fetal maxilla for accurate characterization of facial clefts.

The purpose of this study was to determine whether scanning of the fetal midface in the axial plane allows accurate characterization of facial clefts. During fetal anatomic survey, facial clefts were identified in six fetuses. The midface anatomy was evaluated with ultrasonography in the coronal and axial planes, and the clefts were characterized prospectively as unilateral or bilateral and as involving the lip alone or both the lip and the palate. The integrity of the upper lip was assessed in the coronal and axial planes. The continuity of the normal C-shaped curve of the tooth-bearing alveolar ridge and the anterior six tooth sockets was assessed in the axial plane. The prospective prenatal diagnosis was correlated with postnatal findings in all cases. The clefts where characterized prospectively as unilateral cleft lip (one case), unilateral cleft lip and cleft palate (four cases), and bilateral cleft lip and cleft palate (one case). The prenatal characterization was confirmed to be correct postnatally in all cases. Prenatal sonographic evaluation of the axial view of the tooth-bearing alveolar ridge of the maxilla allows accurate determination of whether a cleft is confined to the lip or involves both the lip and the palate.     

Ultrasound Evaluation of Dermal Sinuses/Fistulas in Pediatric Patients

A dermal sinus/fistula is a common condition; the relevant department should be consulted for appropriate treatment. It is important for radiologists to have adequate knowledge of these conditions to provide the correct diagnosis and recommend subsequent management. This review describes the following lesions: preauricular sinus, midline sinus of the upper lip, nasal dermoid sinus cyst, cheek fistula, first branchial cleft anomaly/sublingual branchial cleft anomaly, thyroglossal duct cyst/fistula, lateral cervical sinus/fistula, congenital dermal sinus/fistula of the anterior chest region, congenital skin sinus/fistula with a sternal cleft, and congenital prepubic sinus. On the basis of the skin orifice location and ultrasound images, radiologists can provide useful information to physicians.     

Prenatal diagnosis of cleft palate by three-dimensional ultrasound

Prenatal diagnosis of cleft palate is very important to prenatal consultation and management after birth. To examine if three-dimensional (3-D) ultrasound (US) is an accurate diagnostic method for clinical use, we analyzed our experience in detecting cleft palate by 3-D US. From June 1996 to January 2000, 21 fetuses with facial clefts were scanned by 2-D US, as well as by 3-D US. The coronal and oblique planes were reconstructed by 3-D US to detect the cleft palate. In addition, level II US was performed to find any possibly associated anomalies. All the scans were recorded on optic disks for final analysis. In our study, the gestational age when prenatal diagnosis was made by US initially was between 20 and 34 weeks. The accuracy for prenatal diagnosis of cleft lip with or without cleft palate by 3-D US was 100%, which was superior to that by 2-D US (p < 0.05). In addition, we proposed a novel method to evaluate the cleft palate systemically by 3-D US. In conclusion, from our study, fetuses with cleft lip combined with or without cleft palate can be easily differentiated by 3-D US. The reconstruction of coronal and oblique planes by 3-D US is a powerful tool for detecting cleft palate.     

Prenatal ultrasound evaluation of fetal diastematomyelia: two cases of type I split cord malformation.

Isolated diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord, conus medullaris and/or filum terminale with splaying of the posterior vertebral elements. This condition is the result of the presence of an osseous or fibrocartilaginous septum producing a complete or incomplete sagittal division of the spinal cord into two hemicords. It may be isolated or associated with other segmental anomalies of the vertebral bodies. Prenatal diagnosis of this anomaly is possible in the early midtrimester by sonography, thus allowing for early surgical intervention and a favorable prognosis. Two cases of fetal diastematomyelia diagnosed by prenatal sonography are presented, each demonstrating the typical sonographic features diagnostic of this condition. The first case, detected at 28 weeks' gestation, presented with disorganization of the bony processes of the vertebral column with a midline echogenic focus. The second fetus, diagnosed at 17 weeks' gestation, had a similar appearance with widening of the posterior elements and the presence of a midline echogenic bony spur. Postnatally, both infants underwent magnetic resonance imaging for a definitive diagnosis. Surgical repair of the defect was performed in the neonatal period in both cases.     

Speech production,intelligibility and oromotor function in seven individuals with Möbius sequence

Abstract

Purpose: Möbius sequence is a rare disease characterized by congenital facial and abducent nerve palsy. Other cranial nerves may be affected. Cleft palate, intellectual disability and neuropsychiatric disorders are associated with the diagnosis. The aim was to explore speech production, intelligibility and oromotor function in a group of individuals with Möbius sequence.

Method: Three children (5–11 years) and four adults (26–54 years) were recruited to the study via the Swedish Möbius syndrome association. In addition to cranial nerve dysfunction, two had a hearing impairment, one Asperger syndrome and one a cleft palate. Perceptual assessments included an evaluation of intelligibility in single words and spontaneous speech, the percentage of phonemes correct (PPC) and screening of orofacial functions (NOT-S). Objective measurements were used for the evaluation of nasality, lip force and tongue force.

Result: Three individuals had severely impaired intelligibility, two slightly impaired and two had fully intelligible speech. The PPC varied between 59.3–100%. Five individuals had bilateral facial palsy, two unilateral facial palsy and six tongue impairment. One had a slightly increased nasalance score. Compensatory strategies were being effectively used.

Conclusion: This case series contributes more in-depth knowledge of speech production, intelligibility and oromotor function in this rare condition.     

Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.

OBJECTIVE: The aim of this study was to determine the relationship between facial clefts, associated malformations and chromosomal abnormalities. STUDY DESIGN: Sonograms of 70 fetuses with cleft lip with or without cleft palate were prospectively and retrospectively evaluated in our tertiary referral center for the nature of the cleft lip or palate and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of the 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. None of the fetuses presenting an isolated cleft lip had additional anomalies and all survived. All fetuses presenting a median facial cleft had concurrent anomalies (particularly of the central nervous system (90%)) and a fatal outcome. Associated defects were more frequent in fetuses with bilateral clefts (72%) than in those with unilateral clefts (48%). Fetuses with a unilateral cleft lip with or without cleft palate had a better survival rate (52%) than those with a bilateral cleft lip with or without cleft palate (35%). The frequency and type of chromosomal abnormalities varied with the type of cleft. The highest rate of chromosomal abnormalities was found in fetuses with median clefts (82%). CONCLUSIONS: Although no conclusions regarding the prevalence of chromosomal or other anomalies in patients with a cleft lip with or without cleft palate in the general population could be drawn, the study revealed a strong relationship between the type of facial cleft, associated malformations, chromosomal abnormalities and fetal outcome.     

Unroofing the diagnosis

Unroofed coronary sinus is a rare congenital cardiac anomaly in which a communication occurs between the coronary sinus and the left atrium due to the partial or complete absence of roof of the coronary sinus. Its diagnosis is important to prevent pulmonary hypertension and brain abscess or cerebral emboli. We report a case of a symptomatic 35-year-old man in which no atrial septal defects were visualized by transesophageal echocardiography but MRI permitted the diagnosis of this rare cardiac anomaly and assessment of shunt severity.     

Exploring parental reactions to the diagnosis of cleft lip and palate

The birth of an infant with a facial cleft evokes a range of emotions and reactions in parents. During acceptance of a child's disability, parents are said to progress through several stages similar to those responses reported in the bereavement process. This paper describes the process of adapting in terms of personal construct theory, and reports a pilot of the repertory grid technique as a therapeutic tool to elicit parental reactions following diagnosis of cleft lip and palate. Two mothers compared other significant life events to their reactions to the diagnosis of cleft lip and palate. This pilot supported the use of the repertory grid technique as a means to facilitate exploration of parental responses. Comparisons to the bereavement process were evident, although individual reactions or perceptions may differ from those expected. Recommendations are made for a wider research study within cleft lip and palate.     

Ipsilateral hemifacial microsomia with dextrocardia and pulmonary hypoplasia: A case report

BACKGROUNDHemifacial microsomia (HFM) is a rare congenital malformation characterized by a combination of various anomalies, including the face, ears, eyes, and vertebrae. Prenatal diagnosis for HFM is possible, and quite accurate ultrasound can detect obvious defects. The etiology is still unknown, although some hypotheses have been proposed, including gene mutation, chromosome anomaly, and environmental risk factors. However, there are few reports of pulmonary hypoplasia and dextrocardia in HFM. CASE SUMMARYA 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly. Physical examination revealed facial asymmetry, preauricular skin tags, and concha-type microtia with stricture of the external auditory canal on the right side. Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis. Audiometric examination showed bilateral severe sensorineural hearing loss. Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSIONThis case presented a rare finding and an unusual association of 3 malformations, ipsilateral HFM, pulmonary agenesis, and dextrocardia.