Goldenhar's syndrome associated with cardiac malformations.

A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs.     

Perineal lipomas associated with anorectal malformations

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.     

Cardiovascular malformations associated with tracheoesophageal fistula and esophageal atresia.

Cardiovascular malformations were present in 48 of 326 (14.7%) patients with tracheoesophageal fistula. The most common cardiac lesion was ventricular septal defect. When tracheoesophageal fistula or esophageal atresia was associated with other gastrointestinal anomalies, tetralogy of Fallot and atrial septal defect were very frequent; when skeletal anomalies were present, the cardiac malformations were usually complex. The hospital mortality in infants with tracheoesophageal fistula and cardiovascular malformations is 79% in contrast to 23% for infants without cardiac abnormalities.     

Genetics and syndromes associated with vascular malformations

Historically, vascular malformations were not thought to be the result of genetic abnormalities because most of those presenting clinically are sporadic. However, research in this field has expanded over the last decade, leading to the identification of genetic defects responsible for several inherited forms of vascular malformations and associated syndromes, which has shed light on the pathogenesis of sporadic lesions. This advancement in the field has not only enhanced diagnostic capabilities but also improved our understanding of the potential role of complex genetic mechanisms in vascular malformation development. This article focuses on genetic contributions of vascular malformations in the context of syndromes and the tests that are available.     

先天性脊柱畸形合并椎管内神经系统畸形发病因素分析

目的 了解先天性脊柱畸形患者中椎管内畸形的发生情况,并探讨发病相关因素.方法 选取2003年3月至2009年10月经本院治疗的610例先天性脊柱畸形患者,术前行病史采集,脊柱CT、MR、腹部B超,心脏彩超等检查,了解脊柱、椎管内畸形及其他系统畸形情况.结果 先天性脊柱畸形患者中椎管内神经系统畸形的发生率为33.0%(201/610),在发病与性别、胎次、父母亲年龄、出生地、脊柱畸形分类、侧弯部位、侧凸方向以及是否合并泌尿系畸形,心血管畸形,肋骨及胸壁畸形等方面比较,差异均无统计学意义.而脊柱侧弯Winter分型为混合型者,在椎管内神经系统畸形组较无畸形组发生率高,差异有统计学意义(P=0.009).结论 先天性脊柱畸形患者椎管内神经系统畸形的发生率较高,需引起临床重视,建议行CT结合MRI检查,以早期发现,避免漏诊,并予适当处理.     

Endocrinopathies associated with midline cerebral and cranial malformations

We systematically reviewed a series of patients (n = 85) with midline cerebral and cranial malformations to correlate the endocrinopathy with the neuroanatomic defect. Midline cleft lip and palate was associated not only with growth hormone deficiency (GHD) but also with diabetes insipidus (DI); holoprosencephaly and optic nerve hypoplasia with absence of the septum pellucidum had a similar incidence of GHD and DI. Optic nerve hypoplasia with absence of the septum pellucidum had the highest incidence of multiple pituitary endocrinopathies and of neonatal hypoglycaemia. Unilateral, although more commonly bilateral, optic nerve hypoplasia was associated with GHD.     

Cardiovascular malformations associated with extracardiac anomalies and malformation syndromes. Patterns for diagnosis

Infants with extracardiac anomalies or malformation syndromes frequently have associated cardiovascular malformations. Knowledge of these predictable patterns of associations allow rapid diagnosis and treatment of these infants.     

Gastrointestinal malformations in Funen county, Denmark--epidemiology, associated malformations, surgery and mortality.

AIM: To report the epidemiology, associated malformations, morbidity and mortality for the first 5 years of life for infants with gastrointestinal malformations (GIM). METHODS: Population-based study using data from a registry of congenital malformations (Eurocat) and follow-up data from hospital records. The study included livebirths, fetal deaths with a gestational age of 20 weeks and older and induced abortions after prenatal diagnosis of malformations born during the period 1980 - 1993. RESULTS: A total of 109 infants/fetuses with 118 GIM were included in the study giving a prevalence of 15.3 (12.6 - 18.5) cases per 10 000 births. Anal atresia was present in seven of the 9 cases with more than one GIM. There were 38 cases (35 %) with associated malformations and/or karyotype anomalies. Thirty-two of the 90 live-born infants died during the first 5 years of life with the majority of deaths during the first week of life. Mortality was significantly increased for infants with associated malformations or karyotype anomalies compared to infants with isolated GIM (p < 0.01). An uneventful surgical course was reported for 74 % of the 58 survivors. CONCLUSIONS: The prognosis for infants with GIM is highly dependent on the presence of associated malformations or karyotype anomalies. Surgery for GIM can be performed with low mortality. Morbidity is high for a small group of infants, but the majority of survivors have an uncomplicated surgical course.     

A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.