Congenital rib defects with the Pierre Robin syndrome

A case of Pierre Robin syndrome with associated rib defects is presented. The rib defects were less severe than in previously reported cases, which are reviewed, and the infant has survived.     

Kniest disease with Pierre Robin syndrome and hydrocephalus

A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail.     

Pierre Robin序列征的研究进展

Pierre Robin序列征(PRS)是一组病因复杂,临床表现多样的先天性发育畸形,其特征为下颌骨发育不全(小颌畸形或颌后缩)、舌后坠及其所致的上气道梗阻,常伴发腭裂.新生儿期常表现为呼吸及喂养困难、吸入性肺炎,部分患儿还伴发其他畸形.临床上如发现小下颌、舌后坠及其所致的上气道梗阻等典型表现时即可做出PRS的诊断.因PRS与许多多发畸形综合征密切相关,故治疗必须采取个体化的原则以获得最好的疗效.多数PRS患儿有不同程度的生长发育落后,它的预后根据其是否为多发畸形的一部分还是单独存在,有无经历过因上气道梗阻所致的脑部缺氧缺血,有很大的区别.     

A parent's view on the care of their baby with Robin sequence

A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and unnecessarily detrimental to quality of life, and proposes possible areas of research to improve patient outcomes.     

Pierre Robin序列征的研究进展

Pierre Robin序列征(PRS)是一组病因复杂,临床表现多样的先天性发育畸形,其特征为下颌骨发育不全(小颌畸形或颌后缩)、舌后坠及其所致的上气道梗阻,常伴发腭裂.新生儿期常表现为呼吸及喂养困难、吸入性肺炎,部分患儿还伴发其他畸形.临床上如发现小下颌、舌后坠及其所致的上气道梗阻等典型表现时即可做出PRS的诊断.因PRS与许多多发畸形综合征密切相关,故治疗必须采取个体化的原则以获得最好的疗效.多数PRS患儿有不同程度的生长发育落后,它的预后根据其是否为多发畸形的一部分还是单独存在,有无经历过因上气道梗阻所致的脑部缺氧缺血,有很大的区别.     

Late development of airway obstruction in the Robin anomalad (Pierre Robin Syndrome) in the newborn

Abstract A survey of the records of 26 consecutive cases of the Robin anomalad, admitted in the first year of life, was undertaken to review the time at which airway obstruction was first noted to occur after birth.
Sixteen cases required active treatment for episodes of airway obstruction associated with cyanosis. Of these, 11 developed obstruction on the first day of life, but five did not obstruct until later (3–21 days). Two infants, both from the early presentation group, died as a result of airway obstruction at 13 and 95 days of age. Management techniques varied over the 11 year period studied, and included prone nursing, body frame, naso-tracheal intubation, nasopharyngeal intubation, and lip tongue anastamosis. Tracheostomy was not performed on any case.
There is a significant risk of major airway embarrassment in this disorder (16 of 25, 62%) even if the infant seems initially well (five of 26, 18%). Early management of infants with the Robin anomalad should, therefore, be undertaken at centres where skilled airway support is available.     

Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature

We performed a retrospective study of all children with Pierre Robin sequence (PRS), admitted to our hospital from 1981–1998 in order to evaluate diagnosis, treatment and prognosis. Patients were divided into two categories: isolated PRS (group 1) and PRS plus, i.e. PRS as part of a more complex syndrome (group 2). A total of 74 patients with PRS were found, 29 (39%) males and 45 (61%) females of whom 47 (63.5%) could be categorised as isolated PRS and 27 (36.8%) as PRS plus. The most frequent diagnoses in patients with PRS plus were Stickler syndrome and the velocardiofacial syndrome. Ophthalmological and fluorescent in situ hybridisation of chromosome 22 investigations should therefore be performed in all patients, as soon as the diagnosis of PRS is established. Some form of airway treatment was necessary in the majority of patients (52 of 74), most could be treated conservatively with prone/lateral positioning and close observation. Endotracheal intubation was necessary in one child from group 1 versus five from group 2. Tracheostomy was performed in three children from group 1 and two from group 2. Feeding problems occurred in about 25% of all PRS patients and stunted growth was seen especially in boys with isolated PRS before the age of 10 months. Conclusion In our series, 33% of patients with Pierre Robin sequence plus had Stickler and velocardiofacial syndromes. Conservative airway management was a sufficient treatment for respiratory problems in the majority of patients. Feeding and growth need special attention in patients with Pierre Robin sequence. Received: 4 April 2000 / Accepted: 21 August 2000     

The role of the nasopharyngeal prong in craniofacial disorders in particular the Pierre Robin sequence

There are a wide range of surgical and maxillofacial options to alleviate upper airway obstruction in children with craniofacial disorders. The nasopharyngeal prong (NPP) is a simple idea where the airway obstruction arising from the posteriorly placed tongue secondary to a small mandible can be overcome quickly and without resorting to more invasive surgical procedures.The role of the NPP is of particular interest in Robin sequence (RS). RS describes a congenital anomaly with retrognathia (often with associated U-shaped cleft palate) where in some children the tongue and small jaw can significantly impact on airway patency with upper airway obstruction. The NPP is a modified endotracheal tube, of ideal diameter and cut to a desired length that can bypass the airway obstruction and regain patency to the upper airway. RS has a natural history of mandibular growth and resolution of the symptoms with time and thus the NPP presents a medium term solution precluding the need in selected children of more permanent and potentially unnecessary surgical procedures.The role of the NPP in other craniofacial disorders (either as a temporary solution or longer term option) requires further research.     

Growth in children with Pierre Robin sequence and isolated cleft palate

Postnatal height and weight growth were assessed in 50 children (20 boys) with Pierre Robin sequence and in 58 children (27 boys) with isolated cleft palate, born in 1967–86. The height and weight measurements from birth to 12 years were collected retrospectively from child health centers and schools. The current Finnish relative weight and SD scores for height were used for growth assessment. The birth size of children with Pierre Robin sequence did not differ from those with isolated cleft palate or from healthy children, on the basis of Finnish norms. During the first year after birth, children with Pierre Robin sequence were shorter and lighter than those with isolated cleft palate but later caught up with them and the Finnish norms. Children with Pierre Robin sequence born prematurely or with associated anomalies showed more deficient growth.     

Congenital heart disease in CHARGE association

Summary This study reviews the spectrum of congenital heart disease and associated anomalies in 59 patients with the CHARGE association. We have analyzed our clinical experience in managing the cardiovascular anomalies and have reviewed outcome and risk factors for mortality. This study also highlights problems of cardiac management in children born with multiple system involvement. Twenty patients have died; actuarial survival was 78% at 1 year and 60% at 10 years. In only four of the nonsurvivors could their demise be ascribed to their underlying congenital heart disease. We found the outlook for survival was poor if more than one of the following three features were present; cyanotic cardiac lesions, bilateral posterior choanal atresia, or tracheoesophageal fistula. However, mortality was largely due not to the structural heart or choanae abnormalities, but instead reflected the underlying pharyngeal and laryngeal incoordination which resulted in aspiration of secretions. Furthermore, outcome is likely to be improved if collaboration between specialist surgical teams allows necessary procedures to be performed using the minimum of anesthetics. Examination of both the short-and long-term management of these children has stressed the importance of a multidisciplinary approach to their care. The pattern of cardiac defects was not random; lesions within the Fallot spectrum accounted for 33% of their congenital heart disease. Atrioventricular septal defects were also overrepresented. Not all cardiovascular defects could be explained by hypothesizing a neural crest etiology.     

A case of severe Pierre Robin sequence with failure to thrive and tachycardia resolved after redo-fundoplication and hiatoplasty

We report an infant suffering from Pierre Robin sequence complicated by gastro-oesophageal reflux and failure to thrive, which were resistant to conservative therapy and a hemifundoplication. Gastro-oesophageal reflux was accompanied by supraventricular tachycardia, treated with propafenone. Tachycardia may be present in Pierre Robin sequence as a consequence of cardiac parasympathetic imbalance. The patient recovered completely from the gastro-oesophageal reflux and tachycardia after redo-fundoplication (Nissen) and a hiatoplasty were performed. Conclusion:This case shows that a thorough search for gastro-oesophageal reflux is indicated in each case of Pierre Robin sequence with failure to thrive.     

Congenital heart disease in the adult

With improved medical and surgical care, more patients with congenital heart disease are now surviving to adulthood and presenting with previously unobserved problems. This review discusses the course of older operated and unoperated patients as far as physical and psychosocial problems and suggests methods of dealing with these previously unencountered clinical situations.     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.     

唐氏综合征患儿先天性心脏病术后并发症和预后的病例对照研究

目的探讨唐氏综合征(DS)患儿先天性心脏病(先心病)术后的并发症及预后。方法以2009年1月1日至2013年6月30日DS先心病术后患儿为DS组,选择同期非DS先心病术后患儿作为对照组。两组根据先心病类型分别分为简单和复杂型先心病亚组。比较两组患儿临床特征、术后并发症及预后。结果 DS组和对照组分别纳入77例,两组年龄、性别构成、体重和先心病类型差异均无统计学意义。DS组简单先心病亚组46例(59.7%),复杂先心病亚组31例;对照组简单先心病亚组47例(61.0%),复杂先心病亚组30例。DS组机械通气时间和ICU住院时间较对照组明显延长(P均0.05),低心排综合征、再插管、肺部感染和肺动脉高压的发生率较对照组亦明显增高(P均0.05);病死率也高于对照组(6.5%vs 1.3%),但差异无统计学意义(P=0.096)。DS组和对照组简单型先心病亚组并发症发生率及病死率差异均无统计学意义(P均0.05)。DS组复杂型先心病亚组在机械通气时间、ICU住院时间、总住院天数较对照组相应亚组均明显延长,低心排综合征、肺动脉高压和肺部感染的发生率亦明显增高(P均0.05),病死率DS组复杂型先心病亚组有增高趋向(12.9%vs 3.3%,P=0.173)。结论 DS不增加简单型先心病患儿术后并发症和病死率;但增加复杂型先心病术后并发症发生率的风险,有增加病死率的趋向。     

Decrease in size of intrathoracic meningocele following insertion of a ventriculo-venous shunt

A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.     

先天性心脏病手术后低心排综合征

低心排综合征(LCOS)是先天性心脏病手术后患者常见的并发症,病死率高。引起LCOS的病因种类很多,其病理生理机制相差甚远。深刻理解LCOS的病因和病理生理机制,有助于降低LCOS患者的发生率和病死率,改善患儿的预后。     

Hypoplastic left heart syndrome: from in-utero diagnosis to school age

HLHS can be treated with successful survival outcome. Prenatal diagnosis of the anomaly is now quite common. Our understanding of the developmental aspects of HLHS during the second and third trimesters of gestation is advancing. Survivors of surgery are being closely followed and studied as they proceed forwards in time. A number of morbidities are identified. Many questions concerning the pathophysiological mechanisms of these morbidities exist. New therapies and treatments will certainly arise to meet the challenges these children face as they enter into adulthood, and as our understanding of this unique cardiovascular state progresses.     

Congenital heart disease: Genetic causes and developmental insights

The genetic basis of congenital heart disease, an important form of cardiovascular disease in the young, is being increasingly recognized. Using a combination of human molecular genetic studies and developmental models in several animal species, significant advances in the understanding of normal cardiac development and the pathogenesis of cardiac malformations are being made. Here we review congenital heart disease due to single gene defects identified by human genetic studies, genotype–phenotype correlations and insights into pathogenesis resulting from studies in model systems. The future promises that these complementary approaches will inform clinical management and provide the means to develop new diagnostic and therapeutic approaches to congenital heart disease.