Down syndrome: clinical profile from India

BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.     

Diagnosis, management and outcome of heart disease in Sudanese patients

OBJECTIVES: To describe the diagnosis, management and outcome of patients with congenital heart disease seen at Sudan Heart Centre. DESIGN: A prospective follow up of all patients diagnosed as congenital heart disease. SETTING: Sudan Heart Centre. SUBJECTS: All children and adults with congenital heart disease seen at Sudan Heart Centre by one paediatric cardiologist from July 2004 to June 2005. RESULTS: Five hundred and twenty two patients were evaluated, 435 had abnormal hearts. The median age was 48 months (one day to sixty five years). Congenital heart disease constituted 87% and acquired heart disease and rhythm disorders 13%. The frequency of the different cardiac heart disease was described and in general did not differ from that reported in the literature except for Ebstein anomaly which was noted to be four times more frequent than reported. Cardiac catheterisation was done for 81 patients, for diagnosis in 61 (75%) and for intervention in 20 (25%) patients. Balloon dilatation, atrial septostomy septal defect and patent ductus arteriosus closure with the help of a visiting team, the success rate for interventions was 95%. Surgery was done for 125 patients. Seventy three operations were done by the local team and 52 by the visiting team. The 30 day operative mortality was 8.3%. CONCLUSION: Paediatric cardiac service in Sudan in echocardiography and cardiac catheterisation is growing. Cardiac surgical results are comparable to the literature.     

Risk factors for transposition of the great arteries in Saudi population

Objectives:To assess potential risk factors and their effect on the development of transposition of the great arteries (TGA).Methods:A retrospective case-control study of all patients diagnosed with TGA between 1999 to 2016 at King Abdulaziz Medical City, Riyadh, Saudi Arabia. Age and gender-matched controls were selected. Risk factors, including consanguinity, gestational diabetes, family history of congenital heart disease, parental age, and maternal parity, were collected. Regression modeling was used to analyze the effects of risk factors on the development of TGA.Results:A total of 206 patients with transposition of the great arteries were enrolled in the study. Transposition of the great arteries cases were divided into simple and complex TGA. Selected healthy controls were 446. In the studied cases, consanguinity was found in 95 (46%) of cases, gestational diabetes was diagnosed in 36 (17.5%) mothers, and 35 (17%) had a confirmed family history of congenital heart disease. When risk factors of the cases were compared to the controls, consanguinity, gestational diabetes, maternal age, and parity were found to significantly increase the incidence of TGA.Conclusion:Our study revealed significant risk factors for the development of transposition of great arteries including first degree consanguineous marriages, gestational diabetes, family history of congenital cardiac anomalies, and increasing maternal age and parity. These factors increased the risk by at least 2 folds.     

Congenital sternal foramen in a stillborn Holstein calf

Congenital sternal foramen is an anomaly whose occurrence is rare in human but is especially unusual in animals. This defect was formed when fusion of multiple ossification centers was incomplete. It may be associated with other lesions in body organs especially cardiac anomalies. In the present study, we report a very rare case of congenital sternal foramen in a Holstein calf. The oval defect was like a gunshot wound and located at the lower third of the sternum. Apparently, the rest of skeleton system seems normal. The awareness of the anomaly is important for better diagnosis and treatment of diseases.     

Situs inversus with dextrocardia with multiple cardiac lesions in adult

Situs inversus with dextrocardia is the malposition most likely to occur with structurally normal heart; generally discovered on routine chest x-ray or physical examination performed for other reasons. These persons experience normal longevity of life and have similar risk of getting acquired disease as that of other person of same age and sex group. Symptoms related to acquired disorder may also lead to discovery of such cardiac malposition. Incidence of congenital cardiac anomalies in dextrocardia with situs inversus is very low globally but its figure in Nepal is not known. We report an adult of 43 years age having situs inversus with dextrocardia associated with multiple cardiac lesions i.e. ventricular septal defect, aortic regurgitation, mitral regurgitation and tricuspid regurgitation. Key words: Situs Inversus Totalis, Dextrocardia, Congenital Cardiac Anomalies, Nepal.     

Clinicopathological features of resected pediatric congenital lung and mediastinal lesions: A single institution experience

Objectives:To evaluate resected congenital lung and mediastinal lesions among children and their characteristics in a single tertiary hospital.Methods:A retrospective chart review analysis of all patients under 14 years of age who underwent congenital lung and mediastinal lesion resection in a single tertiary center from June 1997 to June 2018 was performed.Results:In total, 108 cases of resected lung and mediastinal lesions were performed from June 1997 to June 2018. Congenital lung and mediastinal lesions were found in 52 (48%) cases. Overall, 23 cases were males (44%) and 29 (56%) were females. The most common histopathology was congenital lobar emphysema.Conclusion:This study provides a 21-year review of the clinical and histopathological features of resected congenital lung and mediastinal lesions in a single center. Congenital lung and mediastinal lesions represented 48% of all resected lesions.     

中孕期胎儿先天畸形116例临床分析

目的 评价胎儿畸形的发生情况以及早期诊断和处理方法.方法 回顾性分析1998至2007年间因胎儿畸形行中期引产或胎死官内,难免流产等原因引产后发现为胎儿畸形的患者的临床病理资料.结果 10年间共有中孕胎儿畸形引产者116例,占同期住院分娩者的比例有明显上升趋势(P<0.01).2003至2007年较之1998至2002年,胎儿畸形的确诊方法无明显改变,检出孕周无明显提前.116例胎儿畸形中,发生比例前5位依次为21三体、无脑儿、唇/腭裂、胎儿颈部淋巴管囊肿、心脏畸形.高龄孕妇30例,染色体异常发生比例最高(60.0%).结论 胎儿畸形的发生有升高趋势.高龄孕妇仍是发生胎儿畸形的高危人群.如何早期诊断胎儿畸形,仍是临床亟待解决的问题.     

22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment

INTRODUCTION: The 22q11 deletion syndrome (22q11DS) is associated with many congenital structural anomalies, notably cardiac defects (conotruncal anomalies) and velopharyngeal insufficiency, as well as neurodevelopmental and psychiatric findings in later life. Recent studies have tried to ascertain the true population incidence of this condition. However, this is difficult due to possible under-ascertainment from incomplete genetic testing in possible cases. The aim of this study is to investigate the local incidence and association of this deletion syndrome with other congenital structural anomalies, with emphasis on cardiac defects. METHODS: Data of 22q11 deletion cases born in 2000-2003 were retrieved from the Singapore National Birth Defects Registry (NBDR) and analysed. Data of congenital cardiac defect cases notified to NBDR in the same period were also retrieved and compared with the deletion cases. RESULTS: There were a total of 17 cases of 22q11DS in the four-year period 2000-2003, giving an overall incidence of 1.02 per 10,000 live-births or one in 9,804 births. 94 percent (16/17 cases) were associated with other structural anomalies, and of these, 68.8 percent (11/16 cases) had single system anomalies. Cardiac anomalies were the most common (100 percent). The deletion contributed to 0.86 percent (one in 116 cases) of all cardiac defects born during the same period. A higher contribution of this deletion was noted for interrupted aortic arch (10 percent), pulmonary atresia (12.7 percent) and truncus arteriosus (11.1 percent). CONCLUSION: In view of the high proportion of this deletion among certain cardiac defects, genetic testing should be made available to investigate the true burden and contribution of this deletion. As more genetic testing is done for this deletion, we are likely to see an increase in incidence, reflecting the true prevalence of this condition.     

合肥市蜀山区0~12个月婴儿先天性心脏异常筛查分析

目的：分析合肥市蜀山区0~12个月婴儿先天性心脏异常发生状况。方法利用心脏彩色超声心动图对蜀山区4138名0~12个月婴儿进行筛查。结果4138名婴儿中,心脏异常婴儿642名,异常率为15．5%,男、女婴异常率差异无统计学意义(χ2=0．592, P>0．05);0~12个月婴儿心脏异常率随着月龄的增加逐渐降低,差异有统计学意义(χ2趋势=120．593,P<0．05)。婴儿心脏异常中,卵圆孔未闭最多,构成比为83．3%,其次为房间隔缺损,构成比为5．8%,第三为室间隔缺损,构成比为3．3%。结论防治先天性心脏异常,应从新生儿甚至胎儿抓起,实现早发现、早诊断、早治疗。     

Congenital Anomalies of the Limbs: Part I. Medical Aspects

As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females).

In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies.

     

Anaesthesia for Paediatric Cardiac MRI

Background

General anaesthesia (GA) for cardiac magnetic resonance imaging (MRI) in patients with congenital heart disease (CHD) is challenging for the anaesthesiologist.

Methods

A retrospective review of anaesthesia for cardiac MRI between January 2002 and December 2005 was undertaken.

Result

28 children with cardiac disease were subjected to general anaesthesia for cardiac MRI, of which four patients were in ASA Grade I, five in Grade II, seventeen in Grade III and two in Grade IV. Two patients had undergone previous cardiac surgery. All the cases were managed as inpatients, of which 18 had cyanotic cardiac defects (SpO₂ between 65 and 85%). On two occasions scans were interrupted because of low oxygen saturation or haemodynamic instability during GA. No patient was admitted to the hospital for complications related to general anaesthesia though all were kept under observation for two hours before being shifted to ward. Five patients had a brief episode of hypotension/desaturation during the MRI and responded quickly to interventions.

Conclusion

General anaesthesia for cardiac MRI can be administered safely in children with CHD.Key Words: Cardiac MRI, Congenital heart defects, General anaesthesia     

Sonographic diagnosis of congenital brain malformations: the Ilorin experience

A retrospective study was done to determine the incidence of congenital malformation of the brain among African infants over a 5 year period. Transfontanelle ultrasound (US) was performed on 98 infants consisting of 45 males and 53 females. The mean age was 2.6 months (range 1-11 months). Congenital malformation was present in 25.5% of the 98 cases studied, most of which were associated with hydrocephalus. Cerebral aqueduct stenosis was the commonest congenital anomaly encountered and was found in 24% of case. This study shows that transfontanelle US is a useful tool for diagnosis of congenital brain malformations in infants.     

螺旋CT三维重建和纤维支气管镜对小儿气管支气管畸形的诊断价值

目的探讨螺旋CT三维重建和纤维支气管镜对小儿先天性气管支气管畸形的诊断价值。方法2004年2月至2008年6月间收住温州医学院附属育英儿童医院呼吸科,符合相应标准的0-14岁儿童128例,其中男86例,女42例;年龄〈3个月28例,-1岁53例,-3岁31例,-14岁16例。全部患儿给予螺旋CT和纤维支气管镜检查以明确有无先天性气管支气管畸形,利用诊断试验计算并比较螺旋CT与纤维支气管镜在诊断气管支气管畸形中的敏感性、特异性、阳性预测值和阴性预测值。结果（1）诊断为先天性气管支气管畸形共46例,其中气管支气管软化10例;支气管起源异常15例;气管支气管狭窄21例。（2）10例气管支气管软化均有纤维支气管镜检查明确;螺旋CT三维重建对诊断气管支气管起源异常的特异性和纤维支气管镜相仿,但敏感性明显高于纤维支气管镜;CT三维重建对诊断气管支气管狭窄的敏感性和准确率与纤维支气管镜相当。结论螺旋CT三维重建对气管支气管起源异常和支气管狭窄有较大的诊断价值,纤维支气管镜则能弥补CT对气管支气管软化诊断的不足,两者联合能有利于小儿气管支气管畸形的早期诊断。     

高危新生儿先天性肾脏及尿路畸形超声筛查及结果分析

背景　儿童先天性肾脏及尿路畸形（CAKUT）是一种先天性结构畸形,是导致儿童及青少年终末期肾病的首要原因。目的　本研究通过对高危新生儿进行CAKUT超声筛查,分析高危新生儿CAKUT的发生情况,探讨开展CAKUT超声筛查的适宜对象及模式。方法　选取潍坊市妇幼保健院、安丘市妇幼保健院2012年7月—2014年7月出生的父母同意接受超声筛查的4 883例高危新生儿进行CAKUT超声检查,对筛查结果进行分析,将筛查出的CAKUT进行分类并定期随访。结果　两家医院共筛查出242例CAKUT患儿,CAKUT检出率为4.96%。安丘市妇幼保健院CAKUT检出率（5.43%,225/4 146）高于潍坊市妇幼保健院（2.31%,17/737）（χ2=12.934,P<0.05）。筛查出168例CAKUT男婴,74例CAKUT女婴,男女比例为2.27∶1,男婴CAKUT检出率（6.52%,168/2 575）高于女婴（3.21%,74/2 308）（χ2=28.447,P<0.05）。共筛查出肾积水患儿230例,占CAKUT患儿的95.04%,包括Ⅰ度205例、Ⅱ度23例、Ⅲ度2例;其他CAKUT类型患儿12例,包括重复肾3例、肾囊性病变3例、单侧肾缺如2例、异位肾2例、肾发育不全2例。随访1年,Ⅰ、Ⅱ度肾积水患儿肾积水自行消失,Ⅲ度肾积水患儿给予保守治疗后肾盂扩张消失。其他CAKUT类型患儿均转入潍坊市妇幼保健院儿科肾脏门诊进一步随访,其中2例失访,余随访发现患儿肾功能均正常。结论　潍坊地区高危新生儿的泌尿系统畸形超声筛查中CAKUT检出率为4.96%,较国内外筛查结果偏高。且肾积水最为常见,预后良好。高危儿出生后有必要进行CAKUT超声筛查,对严重肾积水及其他CAKUT类型患儿及早转诊,完善三级转诊机制,有助于尽早采取有效的预防干预措施。     

成人冠状动脉造影中先天异常的分析

目的：研究冠状动脉造影患者中成人先天性冠状动脉异常的检出频度。方法：回顾性总结2795例患者的冠状动脉造影资料，并准确判断出各种先天性冠状动脉异常。结果：检出冠状动脉起源及分布异常39例，检出率1．40％，其中各种右冠状动脉起源及分布异常占79．5％（31／39），左冠状动脉起源及分布异常占15．4％（6／39），单一冠状动脉占0．51％（2／39）；检出各种冠状动脉瘘21例，检出率0．75％，其中冠状动脉-肺动脉瘘16例；检出先天性冠状动脉扩张2例。结论：成年人冠状动脉先天异常的检出率与以往文献报道相似，但具体类型有所不同。冠状动脉造影是确诊冠状动脉先天性异常最重要的检查方法。     

Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4

National screening for congenital hypothyroidism was established in the United Kingdom in 1982. During 1982-4, 488 infants with primary congenital hypothyroidism were detected by the 25 regional screening laboratories in England, Wales, and Northern Ireland. In addition, one infant had signs of cretinism at birth and was investigated before the screening test was done and four infants were known to have been missed by the screening programme; among these four infants the initial thyroid stimulating hormone concentrations were normal in two with inherited defects of synthesis of thyroxine, not measured in one, and false negative in one. The overall incidence of primary hypothyroidism was 1:3937 births (boys 1:6640, girls 1:2756). The incidence seemed to be reduced in infants born to black mothers (two cases only) and increased in those born to Asian mothers (61 cases). Congenital anomalies other than those of the thyroid glands were reported in 36 children (7%), and 15 (3%) died from various causes before the age of 4. Infants who were considered to show unequivocal evidence of hypothyroidism started treatment at a median age of 17 days (5th and 95th centiles 10 and 42 days) compared with a median age of 14 days (5th and 95th centiles 9 and 21 days) for infants with classic phenylketonuria also detected by national screening.     

LVEF、NT-proBNP联合cTnI对先天性心脏病患儿术后低心排血量综合征的预测价值

目的 分析左心室射血分数（LVEF）、N-末端脑钠肽前体（NT-proBNP）联合心肌肌钙蛋白I（cTnI）对先天性心脏病患儿术后低心排血量综合征的预测价值。方法 选取2019年6月—2021年9月于上海儿童医学中心三亚市妇女儿童医院接受体外循环下先天性心脏病矫正术的121例患儿,按术后是否发生低心排血量综合征分为低心排血量综合征组和非低心排血量综合征组。比较两组患儿的性别、年龄、体重、主动脉阻断时间、体外循环时间、机械通气时间、血管活性药物评分及先天性心脏病类型;比较两组患儿的LVEF、NT-proBNP、cTnI;采用多因素Logistic回归模型分析先天性心脏病患儿术后低心排血量综合征发生的影响因素;绘制ROC曲线,分析LVEF、NT-proBNP、cTnI及三者联合对先天性心脏病患儿术后低心排血量综合征发生的预测效能。结果 121例体外循环下先天性心脏病矫正术患儿术后发生低心排血量综合征39例,发生率为32.23%;两组的年龄、主动脉阻断时间、体外循环时间、机械通气时间及LVEF、NT-proBNP、cTnI比较,差异均有统计学意义（P <0.05）,低心排血量综合征组年龄小于非低心排血量综合征组,LVEF低于非低心排血量综合征组,主动脉阻断时间、体外循环时间、机械通气时间长于非低心排血量综合征组,NT-proBNP、cTnI高于非低心排血量综合征组;多因素Logistic回归分析发现,年龄［O^R=0.436（95% CI：0.186,0.769）］、LVEF［O^R=0.877（95% CI：0.779,0.987）］是先天性心脏病患儿术后低心排血量综合征发生的保护因素（P <0.05）,主动脉阻断时间［O^R=3.652（95% CI：1.425,7.002）］、体外循环时间［O^R=3.702（95% CI：1.463,8.652）］、机械通气时间［O^R=2.025（95% CI：1.165,5.385）］、NT-proBNP［O^R=1.005（95%CI：1.003,1.007）］、cTnI［O^R=3.758（95% CI：1.549,9.121）］是危险因素（P <0.05）;ROC曲线分析结果显示,LVEF、NT-proBNP、cTnI及三者联合预测脑先天性心脏病患儿术后低心排血量综合征发生的敏感性分别为76.5%（95% CI：0.682,0.875）、81.2%（95% CI：0.751,0.932）、78.6%（95% CI：0.693,0.887）、86.5%（95% CI：0.793,0.932）,特异性分别为73.5%（95% CI：0.602,0.835）、79.6%（95% CI：0.693,0.900）、75.5%（95% CI：0.659,0.861）、84.2%（95% CI：0.782,0.935）。结论 LVEF、NT-proBNP、cTnI是先天性心脏病患儿术后低心排血量综合征发生的独立预测因子,且三者联合可有效预测低心排血量综合征的发生。     

特发性脊柱侧凸患者术前超声心动图筛查结果分析

目的研究需手术治疗的特发性脊柱侧凸(IS)患者心脏异常发生率,并探讨其影响因素。方法回顾性分析245例住院治疗的特发性脊柱侧凸患者的临床资料和超声心动图结果,并按心脏结构性异常和心脏功能性异常分类,分别统计其发生率。按患者的性别、年龄、冠状面主弯Cobb角分组,分析上述因素对心脏异常发生率的影响。并对比心脏异常和心脏正常患者的年龄、主弯角度及超声心动图各指标是否有统计学差异。结果纳入研究的IS患者共245人,共有106人心脏出现异常,包括28人心脏结构性异常和78人心脏功能性异常。在心脏结构性异常中房间隔缺损最多见(11人,11/28;39.29%),而在心脏功能性异常中三尖瓣微量返流最多见(63人,63/78;80.77%)。按性别、年龄、冠状面主弯Cobb角分组后,分别比较心脏异常发生率、心脏结构性异常发生率及心脏功能性异常发生率均无统计学意义(P≥0.05)。按心脏异常和心脏正常分组,对比两组患者间年龄、主弯角度及心脏各腔内径与左室收缩功能,除左房内径(t=2.35,P=0.02<0.05)外,其他测值均无显著差异。结论需手术治疗的特发性脊柱侧凸患者中有相当比例的患者存在心脏结构性或功能性异常。完善术前超声心动图检查,有助于了解患者心功能状态,为围手术期安全提供参考。     

Congenital syphilis has not disappeared

Thirty-three cases of congenital syphilis that were seen at The Children's Hospital, Camperdown, over a 34-year period were reviewed. Twenty-nine cases were examples of early congenital syphilis, as the patients developed clinical features in the first two years of life, and the other four cases were examples of late congenital syphilis, with the clinical features developing between two years and nine months of age and 10 years of age. Twenty-five patients were symptomatic at the time of admission to hospital. The most common clinical feature on the patient's presentation to hospital was a maculopapular or vesiculobullous skin eruption which occurred in 13 of the infants. Hepatic and splenic enlargement were present in 12 cases, and nine children had the "snuffles". Five of the children died. Patient follow-up occurred in fewer than 40% of cases and three of the children who were followed-up suffer from developmental delay. Congenital syphilis can occur in all social groups but is most common in infants who are premature or are small for gestational age and are born to young, unmarried mothers of low socioeconomic status. The treatment of congenital syphilis is simple and effective although the patients may need to be linked with community-health facilities to assist in their compliance with follow-up appointments.     

Congenital Anomalies of the Limbs: Part II. Psychological and Educational Aspects

As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). The medical and prosthetic aspects were dealt with in Part I of this paper. Part II describes, in a joint report, the results of psychiatric, psychological and educational assessments.

There was no evidence of major emotional disorder in any of the patients, although conflicts were intensified by the presence of the physical anomaly. No relation was found between intelligence, emotional adjustment and disability. The patient's attitude towards his disability and prosthesis is definitely influenced by the degree of parental acceptance of the handicap and by the character of the emotional undertones in the total environment. In order to favour the occurrence of the healthiest modes of development in these children, the authors believe that the medical profession should be made fully aware of the physical and emotional problems which may arise after the birth of a deformed child. It is considered very important that the mother should receive psychotherapeutic support as soon as possible after the child is born.