Pseudocoarctation of the aorta associated with retro-aortic left brachiocephalic vein: a case report

Summary The authors report a case of pseudocoarctation of the aorta associated with a retroaortic left brachiocephalic vein. This exceptional congenital malformation, never described before, was studied by aortography, computed tomography and magnetic resonance imaging.

---

Pseudo-coarctation de l'aorte associée à une veine brachio-céphalique gauche rétro-aortique: à propos d'un cas

Résumé Les auteurs rapportent le cas d'un patient porteur d'une pseudocoarctation de l'aorte et d'une veine brachio-céphalique gauche rétro-aortique. L'association de ces deux anomalies congénitales, qui n'avait jamais été décrite auparavant, a été étudiée par aortographie, tomodensitométrie et imagerie par résonance magnétique.

     

Anomalous subaortic left brachiocephalic vein in surgical cases and literature review

Anomalous subaortic left brachiocephalic vein (ASLBV) is a rare systemic venous anomaly. We review our experience with patients associated with ASLBV who underwent cardiac surgery at three institutions. From 1989 to 2009, the medical records of surgically treated patients with ASLBV were analyzed; the incidence of ASLBV, clinical characteristics, and associated anatomical findings were assessed. Fifteen patients had ASLBV. All ASLBVs coursed left lateral to the aortic arch, passed under the ascending aorta anterior to the central pulmonary artery, and joined the right brachiocephalic vein. Fourteen patients had congenital heart disease (CHD), and the remaining patient did not have cardiac anomalies. Its incidence was 0.57% (14 of 2,449) in patients with CHD and only 0.02% (1 of 4,805) in patients without CHD. In patients with CHD, 73.3% (11 of 15) of the patients had conotruncal cardiac anomalies such as tetralogy of Fallot, ventricular septal defect with pulmonary atresia, truncus arteriosus, and interruption of the aortic arch. Eight patients had aortic arch anomalies, including right aortic arch and cervical aortic arch. The deletion of chromosomal 22q11.2 was confirmed in two patients, and one patient was diagnosed with DiGeorge syndrome. ASLBV was clinically silent even without any surgical intervention. ASLBV is a very rare anomaly and is highly associated with conotruncal cardiac anomalies and aortic arch anomalies, including right aortic arch and cervical aortic arch. Preoperative diagnosis is important when any surgical interventions are intended, especially, in patients with conotruncal cardiac anomalies. Clin. Anat. 23:950–955, 2010. © 2010 Wiley‐Liss, Inc.     

Problem in diagnostic imaging: Behind the left renal vein

This study presents, as diagnostic problems, computed tomographic scans from a selection of patients with suspected or known tumors, primary or secondary, in the retroperitoneal area, at the level of the renal hila. The study emphasizes the value of serial CT scans, and of three-dimensional reconstructions made from them, in distinguishing between tumor and incidental venous anomalies in this region, principally those involving communications between the left renal vein and the ascending lumbar vein. Clin. Anat. 10:349–352, 1997. © 1997 Wiley-Liss, Inc.     

左髂总静脉的形态学研究及其临床意义

目的：研究左髂总静脉（LCIV）受压部位及相邻节段的结构特征,以探讨LCIV受压段的血管重塑及力学特性.方法：解剖80例成年尸体（男42例,女38例）,观测LCIV受压段及相邻节段外径、右髂总动脉（RCIA）与LCIV的相交角度以及右髂总静脉（RCIV）相应部位的外径;随机选择18例标本采用 Masson染色,观测受压段及其近侧、远侧段以及对侧相应部位的平滑肌（SM）、弹力纤维（EF）、胶原纤维（CF）等组织成分的变化.结果：受压段静脉管壁塌陷、菲薄.与对侧相应部位及受压处近侧和远侧段相比,受压处管径扩大（P＜0.01）;与RCIV比较,LCIV各节段SM相对含量降低,而CF和EF相对含量增加（P＜0.05）;与相邻节段相比,除近侧段的EF以外,其他各项指标差异都具有显著的统计学意义（P＜0.05）.结论：（1）LCIV的受压,引起血流动力学改变,诱导血管重塑,管壁弹性成分改建以及粘连结构的出现.（2）上述形态改变进一步引起血流动力学紊乱,从而加剧组织学的改变.（3）这一系列变化可能是导致髂-股静脉血栓形成和髂静脉压迫综合征发生的重要原因.     

下颌后静脉的形态学特点及其临床意义

目的:明确下颌后静脉的解剖学特点及其与下颌角之间的解剖关系,为下颌角截骨术中避免损伤下颌后静脉提供解剖学依据。方法:22侧福尔马林固定成人尸体头颈部标本,解剖观测下颌后静脉的走行、构成、长度、外径及其与周围结构的关系。结果:下颌后静脉位于下颌骨后缘,由颞浅静脉和上颌静脉合成。起始处外径为(5.6±2.6)mm,长度为(4.46±2.08)cm。围绕下颌支后缘静脉长度为(4.27±0.80)cm,围绕下颌体下缘静脉长度为(2.02±0.42)cm。结论:在改脸形手术中预切除下颌角的后缘和下缘均有静脉围绕,尤其在下颌支后缘的中段,静脉口径粗大,与下颌支之间仅隔以菲薄骨膜,在下颌角截骨术中要注意避免损伤此静脉。     

Left ventricular ultrastructure in pulmonary stenosis and in tetralogy of Fallot

Summary Twelve patients underwent haemodynamic studies and myocardial biopsies: 7 with pulmonary stenosis (PS) and 5 with tetralogy of Fallot (TOF). Their ages ranged between 2 and 43 years. Right ventricular pressure was 128±43 mmHg in PS and 98±8 mmHg in TOF. Aortic blood oxygen saturation was 97.0%±1.4% in PS, and 88.4%±6.3% in TOF. Left ventricular (LV) weight was normal in TOF while it was increased in PS: 140.7±74.3 vs 74.0±8.7 g/m² (P<0.001). Contractility was altered in both PS and TOF: ejection fractions were 56%±7% vs 65%±6% (P<0.001). Light microscopy showed abnormal transverse diameter of left ventricular myocytes in both PS and TOF: 18.6 µm±4.0 µm vs 19.4 µ±4.9 µm. The percentage of interstitium was normal: 29.6%±3.9% vs 26.2%±5.1%. Transmission electron microscopic examination revealed hypertrophic changes in all patients and degeneration in 7 of them. Hyperfunctional alterations of the myocytes were characterized by the increased number and reduced size of mitochondria, the enlarged Golgi complex, the increased number of ribosomes, the marked folding and convolutions of the nuclear membrane, the dilatation and tortuosity of T tubules. Myofibrillar lysis was the major degenerative change, which was also observed in the right ventricle (RV) of the same patients. No correlation was observed between these alterations and the patient ages, RV pressures, aortic blood oxygen saturations and ejection fractions. These findings led us to conclude that: (1) suprasystemic pressure overload of the RV induces macroscopic LV hypertrophy; (2)mild and suprasystemic pressure overload of the RV induces hyperfunctional changes in the LV; (3)myocardial degenerationis not related to hypertrophy nor to hypoxia, but is part of a more widespread cardiovascular fetopathy.     

左上肋间静脉解剖标识在微创侧切口动脉导管结扎术中的应用

目的 探讨左上肋间静脉作为特殊解剖标识在微创侧切口行动脉导管结扎术中的临床应用价值。方法回顾性分析2009年12月—2015年2月河南大学附属郑州市第一人民医院心胸外科收治的72例动脉导管未闭患者的临床资料。按术中寻找动脉导管方式不同将患者分为两组:对照组32例,利用传统的动脉导管三角区寻找动脉导管;观察组40例,利用横跨主动脉弓上的左上肋间静脉的中点垂直线与降主动脉内侧缘交点作为动脉导管的位置。比较两组患者手术时间、术中出血量、喉返神经损伤率等。结果两组患者均顺利找到动脉导管,术中均无导管撕脱大出血、漏扎及误扎,未发生乳糜胸。 观察组手术时间(73.1±15.4)min,明显少于对照组(111.5±11.3)min,差异有统计学意义(t=11.790,P<0.01);观察组术中出血量为(22.88±7.97)mL,对照组为(23.13±8.55)mL,差异无统计学意义(t=0.123,P>0.05)。观察组未发生喉返神经损伤,对照组喉返神经损伤2例,差异无统计学意义(χ²=2.571,P>0.05)。结论 利用横跨主动脉弓上的左上肋间静脉这一特殊解剖标识可准确识别动脉导管确切位置,显著缩短手术时间,减少手术创伤,值得临床推广。     

基于CT评估解剖压迫性左头臂静脉狭窄的解剖学因素及临床意义

目的 探讨解剖压迫性左头臂静脉狭窄的解剖学因素及临床意义。方法 回顾性研究。纳入重庆医科大学附属第一医院2018年1月—2019年9月有左上肢功能性血透通路(自体动静脉内瘘或人工血管动静脉内瘘)且行胸部增强CT扫描的血液透析患者107例作为观察组,2019年7—9月行胸部增强CT扫描的非血透患者758例作为对照组。观测指标:左头臂静脉最小前后径(D1)、胸骨与主动脉弓(或头臂干)之间的最短前后距离(D2)、胸廓前后内径(D3)。分析:(1)D1、D2、D3之间关系;(2)D1、D2与身高、体质量、年龄、性别、高血压病史的关系;(3)左上肢功能性血透通路内瘘存续时间对D1、D2的影响;(4)D1≤2 mm患者的情况。结果 观察组患者较对照组年龄更大、高血压病史者更多,差异均有统计学意义(P值均＜0.01);性别、身高、体质量组间比较差异均无统计学意义(P值均＞0.05)。(1)观察组D1大于对照组,分别为(8.513±3.337)mm、(7.812±3.176)mm,差异有统计学意义(P＜0.05);两组D2比较差异无统计学意义(P＞0.05);观察组、对照组患者的D1与D2均呈正态分布、线性相关(r=0.663、0.694,P值均＜0.01),与D3均没有明显的线性关系。(2)身高、体质量与D1、D2均无明显的线性关系(P值均＞0.05)。男性的D1、D2均较女性大:观察组的D2以及对照组的D1、D2,男女差异均有统计学意义(t=3.323、2.048、5.721, P值均＜0.01)。对照组患者的D1、D2随着年龄增高而减小,差异均有统计学意义(F=14.025、11.822, P值均＜0.01)。(3)患者左上肢功能性血透通路内瘘存续的时间与D1、D2均无线性关系(r=0.471、0.223, P值均＞0.05)。(4)D1≤2 mm的患者在两组中比例相当,观察组2.8%(3/107)、对照组3.6%(27/758):观察组3例有左上肢功能性血透通路透析患者均未报告左上肢肿胀症状;对照组中有3例患者在经左侧置入导管后出现不同程度的左上肢肿胀症状,其中2例被诊断为深静脉血栓形成。结论 左头臂静脉最小前后径与同层面胸骨与主动脉弓(或头臂干)之间的最短距离密切相关,解剖压迫性左头臂静脉狭窄可能增加左上肢功能性血透通路建立后出现左上肢水肿以及静脉治疗导管置入后深静脉血栓形成的风险。     

Total anomalous pulmonary vein drainage: report of an autopsy case associated with atresia of the common pulmonary vein and left superior pulmonary vein

We describe the clinicopathological features of a case of total anomalous pulmonary vein drainage (TAPVD) associated with atresia of the common pulmonary vein (ACPV). A male Japanese infant born at 37 weeks of gestation demonstrated apnea and severe respiratory acidosis immediately after delivery. The patient died of hypoxemic respiratory failure 6 days after birth despite the initiation of artificial ventilation and administration of a surfactant. Autopsy showed the bilateral inferior pulmonary veins joined with a blind confluence, representing ACPV, accompanied by atresia of the left superior pulmonary vein. Moreover, the anomalous and small right superior pulmonary vein drained into the superior vena cava, consistent with partial and supracardiac type TAPVD. A histological examination of the lungs exhibited diffuse dilation of the lymphatic channels in the peribronchial, interlobular, hilar and focally, subpleural areas. The channels were lined with flattened endothelium which was immunohistochemically positive for D2-40. These findings conformed to a secondary form of pulmonary lymphangiectasis due to the congenital cardiovascular anomalies, including TAPVD and ACPV. To the authors' knowledge, this is the first case of TAPVD associated with ACPV, atresia of left superior pulmonary vein and pulmonary lymphangiectasis.     

Bahren types III and IVa testicular vein anomalies as a reason for failure in left idiopathic varicocele retrograde sclerotherapy. Ontogenic discussion and clinical implications

Abstract: Left testicular vein anatomy has received more attention due to the presence of competent or incompetent venous valves and bypassing anastomoses, which are involved in venographic diagnosis and embolisation of varicocele. The left gonadal vein develops, in both males and females, between the 5^th and 7^th intrauterine weeks, being derived from the distal or postrenal portion of the left subcardinal vein. The varicocele aetiologic hypothesis leads to ontogenetic disturbances in the development of the secondary venous system. Retrograde testicular venography shows the precise anatomy of the left pampiniform plexus, while anterograde testicular venography identifies the presence of the valve and possible continence. In the present case sclerotherapy could not be achieved due to testicular vein anomalies. Sclerotherapy versus surgical high ligature of the left testicular vein in cases of left idiopathic varicocele with testicular vein anomalies is discussed.     

Anatomic study of the umbilical vein and ductus venosus in human fetuses: ultrasound application in prenatal examination of left congenital diaphragmatic hernia

Summary For clinicians it is very difficult to evaluate the prognosis of a left congenital diaphragmatic hernia (CDH) at prenatal ultrasound examination. Surgical studies show that the presence of a large part of the liver in the chest is a criterion of poor prognosis. However, ultrasonography encounters some difficulties in determining the precise position of the liver in the thoracic cavity. The aim of this anatomic study was to define the relationship between the position of the liver and the path of the ductus venosus and of the umbilical v., which are easily recognizable at prenatal sonography. Twenty dead fetuses were used for the study (12 with a left CDH and 8 without). All fetuses underwent radiographic assessment, anatomic dissection and cross-sectional study. The angle between the umbilical v. and the ductus venosus in different planes was measured. The more the liver was in the thorax, the greater was the angle between the ductus venosus and the sagittal plane, and the less the angle between the ductus venosus and the umbilical v. These angles can be easily measured by prenatal ultrasound examination of the fetus. Our findings suggest that it is now possible to offer the clinician a new and reliable way to determine the prognosis of a left CDH before birth.

---

Étude anatomique de la veine ombilicale et du conduit veineux chez le ftus humain : application au diagnostic prénatal des hernies diaphragmatiques congénitales gauches

Résumé Il est difficile pour le clinicien d'évaluer le pronostic d'une hernie diaphragmatique congénitale (HDC) gauche lors de l'examen échographique prénatal. Les études cliniques chirurgicales montrent que l'existence du foie à l'intérieur du thorax constitue un facteur de mauvais pronostic. Mais les échographistes ont des difficultés à apprécier directement sa position dans le thorax. Le but de ce travail anatomique était de préciser les rapports qu'il y a entre les positions du foie et celles du conduit veineux (Ductus venosus) et de la veine ombilicale, qui sont faciles à retrouver à l'examen échographique. Vingt ftus ont été utilisés (12 avec une HDC et 8 indemnes). Tous ces sujets ont été examinés radiologiquement puis anatomiquement par dissection et coupes. Les angles formés par la veine ombilicale, le conduit veineux et les différents plans de l'espace ont été mesurés. Plus le foie était intrathoracique, plus l'angle formé par le conduit veineux et le plan sagittal augmentait et plus l'angle entre le conduit veineux et la veine ombilicale diminuait. Ces angles sont faciles à mesurer lors d'un examen échographique. Il est donc maintenant possible d'offrir aux cliniciens un critère fiable pour évaluer le pronostic d'une HDC gauche avant la naissance.

     

The anatomical relationship between the sural nerve and small saphenous vein: An ultrasound study of healthy participants

Procedures involving the small saphenous vein (SSV) can result in sural nerve (SN) damage due to the proximity of the two structures. The relationship between the SN and SSV has previously been described in cadaveric studies with limited scope on surface landmarks. This study investigates the relationship between the SN and SSV in vivo through ultrasound. Transverse/short‐axis ultrasound scans of 128 legs (64 healthy participants) were taken by a single observer using a GE Logiq e ultrasound system with a 5–13 Hz linear transducer (GE Logiq 12L‐RS). The SN was identified and traced from the lateral malleolus to the popliteal fossa noting its course and proximity to the SSV. The distance between the SN and SSV was measured at points representing the distal 50% and 25% of the total leg length (the distance between the medial tibial condyle and the inferior edge of the medial malleolus). The SN and SSV were visualized in all participants regardless of BMI and atypical anatomical relationship were noted in 20.3%. The SN pierced the fascia in the distal 25.9% ± 5.3% of the total leg length. The distance between the SN and SSV was 4.06 ± 1.8 mm and 3.4 ± 1.4 mm in the distal 50% and 25% points of the total leg length, respectively. There was no significant effect of sex or body side. The SSV is a viable option for multiple vein harvest. Ultrasound visualization can be a beneficial tool for delineating variations of the SN in relation to SSV prior to surgery. Clin. Anat. 32:277–281, 2019. © 2018 Wiley Periodicals, Inc.     

Pneumomediastinum and the aortic nipple: The clinical relevance of the left superior intercostal vein

This article discusses the appearance of the “aortic nipple” in chest radiography, and reviews the embryology and anatomy of the left superior intercostal vein which causes the appearance of an “aortic nipple.” This radiological sign is useful in differentiating certain thoracic pathologies, such as pneumomediastinum, pneumopericardium, and medial pneumothorax. Pneumomediastinum is an encompassing term describing the presence of air in the mediastinum, and may arise from a wide range of pathological conditions. Despite the well‐described imaging of pneumomediastinum, it is sometimes difficult to differentiate from other conditions such as pneumopericardium and medial pneumothorax. A separate finding, “aortic nipple” is the radiographic term used to describe the lateral nipple‐like projection from the aortic knob present in a small number of individuals. The aortic nipple corresponds to the end‐on appearance of the left superior intercostal vein coursing around the aortic knob, and may be mistaken radiologically for lymphadenopathy or a neoplasm. Despite their relative independence, the aortic nipple is defined by new contours in cases of pneumomediastinum, taking on an “inverted aortic nipple” appearance. In this position, the inverted aortic nipple may facilitate radiographic discrimination of pneumomediastinum from similar conditions. This study aims to review the common clinical and radiographic features of both pneumomediastinum and the aortic nipple. The radiologic appearance of the aortic nipple occurring in unison with pneumomediastinum, and its potential role as a tool in the differentiation of pneumomediastinum from similarly presenting conditions will also be described. Clin. Anat. 27:757–763, 2014. © 2013 Wiley Periodicals, Inc.     

A case of persistent left and absent right superior caval vein: An anatomical and embryological perspective

The relatively common persistent left superior caval vein (LSCV) is in most cases associated with doubling of the superior caval vein. A persistent LSCV with absent right superior caval vein (RSCV)—a rather rare event—was found during our course of gross anatomy. The LSCV drained into an enlarged coronary sinus, which was partly accompanied by an apparent “double” sinus of normal size draining into this enlarged coronary sinus. Histological and immunofluorescence studies using antibodies against smooth and cardiac muscle actins were performed. The terminal part of the LSCV near the opening into the right atrium contained cardiac actin as expected for a normal derivative of the left sinus horn. Previously only one case of doubled coronary sinus with LSCV has been reported and this abnormality was explained by splitting of the sinus. In our case, the partly doubled coronary sinus had the structure of coronary veins. Mechanical forces have been invoked for the obliteration of the LSCV. Therefore, we examined thirteen human embryos from 15 mm to 32 mm crown‐rump length. In one embryo, we found a persistent LSCV together with an enormously enlarged left atrium. Contrary to previous suggestions our data indicate that during normal development a compression of the left anterior cardinal vein does not sufficiently explain the obliteration of the left and the persistence of the right vein. We therefore believe that beside a left dominated blood flow of head and arm, genes for left‐right signaling may have to be taken into consideration. Clin. Anat. 23:277–286, 2010. © 2010 Wiley‐Liss, Inc.     

Quantitative ultrasound of the calcaneus in a Korean population: reference data and relationship to bone mineral density determined by peripheral dual X-ray absorptiometry

The aim of this study was to establish reference data for the quantitative ultrasound (QUS) of the calcaneus and for the bone mineral densities (BMD) of the calcaneus and distal forearm, and to evaluate the correlation between QUS parameters and BMD in a Korean population. We performed a cross-sectional study involving 3,053 subjects (1,225 men and 1,828 women). QUS was conducted on the calcaneus and was quantified as speed of sound (SOS, m/sec), broadband ultrasound attenuation (BUA, dB/MHz), and stiffness index. The BMD of the calcaneus and distal forearm were measured using dual X-ray absorptiometry. The peak mean values for the QUS parameters occurred in the 20 to 29-yr-old subjects of both sexes, with the exception of the BUA, which reached the highest values in women of 30-39 yr. For both sexes, the mean BMD of the calcaneus was highest in those 20-29 yr old and that of the distal forearm was highest in those 40-49 yr old. The correlations between the QUS and BMD results were found to be 0.41 to 0.73 in men and 0.51 to 0.76 in women. Theses data can serve as a reference values for both sexes in Korea.     

The effects of botulinum toxin A and papaverine on human saphenous vein and internal mammary artery grafts: an in vitro study

IntroductionAutologous saphenous vein (SV) and internal mammary artery (IMA) are used as bypass conduits during coronary artery bypass graft surgery. Vasospasm of the arterial and venous grafts may constitute a significant clinical problem. Pretreatment with a vasodilator drug of the graft ex vivo or intraluminal injection before implantation may be used for spasm prophylaxis. This in vitro study was designed to assess the vasoactive effects and time-dependent changes of botulinum toxin A (BTX-A) and papaverine pretreatment on vasospasm of human SV and IMA grafts. Also, histomorphology of the vessels was assessed.Material and methodsSV and IMA segments were suspended in organ baths, and isometric contraction responses to 2 different concentrations of 5-hydroxytryptamine (5-HT) and endothelin-1 (ET-1) were recorded after incubation with 2 different concentrations of BTX-A and papaverine at 2 time points (0 h and 2 h).ResultsThe results revealed the following: 1) incubation with BTX-A and papaverine relaxes both SV and IMA rings contracted with 5-HT and ET-1; 2) the duration of the relaxant effect of BTX-A lasts longer than papaverine; and 3) no apparent histomorphological changes were observed in the grafts under light microscopy.ConclusionsThis study demonstrates that in human SV and IMA grafts, pretreatment with both BTX-A and papaverine are safe and have a potent inhibitory effect depending on the vessel and vasoconstrictor agent. The long-lasting vasodilatory effect of BTX-A on vascular smooth muscle may provide promising results in the prevention of venous and arterial graft spasm.     

The dynamics of cross-bridge movement in vascular smooth muscle estimated from a single isometric contraction of the portal vein: The influence of temperature and calcium

The velocity of the contractile elementV _CE of the rat portal vein during a single isometric twitch was calculated from the ratio of the rate of tension increase (dT/dt) to the stiffness (dT/dL) of the series elastic element. This stiffness was considered as a linear function of tension (dT/dL=k · T), and thus the respective term wasV _CE=(dT/dt)/(kT). A polynome of the 10th order was fitted to the time course of tension change within the first seconds of stimulation. From this function, the instantaneous values of forceT, rate of tension increasedT/dt, as well as the ratio(dT/dt)/T were computed. The series elasticity was treated as the respective stiffness factor k.V _max isV _CE extrapolated to zero load, and this value gives an index of the turnover rate of the myosin cross-bridges. The experiments were carried out at different temperatures (37° C, 30° C, and 25° C) as well as at different intracellular calcium levels occurring as a staircase phenomenon in the first contractions after a period of non-stimulation of 20 min.With increasing temperature,T remained constant but there was an increase inV _max (Q ₁₀=1.9), peakV _CE (Q ₁₀=1.8) and in (dT/dt)_max (Q ₁₀=1.8). Furthermore, this so-called tachytropic effect of temperature showed a reduction of the time to the maximumdT/dt (Q ₁₀=1.4), and to the peakV _CE (Q ₁₀=1.2).During a staircase cycle the parameters describing the contractile state, i.e. theV _max, the time to maximumdT/dt, and the time to peakV _CE remained constant.T, maximumdT/dt and peakV _CE were, however, considerably increased. These results are typical of the socalled polytropic effect of calcium.The experimental results obtained from the isometric force-velocity relation were compared with those calculated by means of isotonic contractions in previous experiments. There were similar changes in the dynamics of contraction, irrespective of the method used for calculation ofV _max; this was the case in experiments with varied temperatures and calcium levels. Therefore the determination ofV _max from a single isometric contraction seems to be a suitable method of describing the elementary process of contraction in vascular smooth muscle. This method showed a higher time resolution as compared with other methods using isotonic contractions.     

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly. ? 2012 Wiley Periodicals, Inc.