1例双胞胎Crouzon综合征姐妹的临床及影像学特征报道

本文报道了一例双胞胎Crouzon综合征姐妹的临床及影像学特征.两患儿出生1年半后,逐渐出现头颅变尖和眼球突出,另有间断打鼾、张口呼吸、呼吸暂停和便秘.父母非近亲结婚.体检发现两患儿头颅上突,呈塔形;眼裂增宽,眼球突出.眼眶CT扫描结果显示两患儿双侧眼轴前突,眼球半脱位;颅脑MRI扫描结果显示两患儿颅骨前后径短,上下径长,头颅呈塔形.     

单头双面畸胎一例报告

尸检:死胎,女,体重3750克,身长47.5 cm,皮肤色泽正常,胸对称,腹微膨隆,四肢发育完好。头颅显著增大,前额突出,头围44 cm。前囟正中略呈沟形凹陷,经眼眶延伸到下颌以此沟形凹陷为界,对称的将胎儿颜面分为左右两部分,具有四眼、两鼻、两嘴、及两耳。左颜面的右眼球与右颜面的左眼球共居正中眶内,眼球微突,下眼睑轻度外     

颅面骨发育障碍综合征一家系四例

先证者(2)　男,7岁,因“鼻根部被打伤”就诊。检查:头部外形呈尖头,鹦鹉鼻形,上颌骨小,上唇较短,下颌前突,反咬颌。双眼球突出,眶距98mm。视力右眼0.9,左眼1.0。眼位:外斜10°。双眼球运动:各方向协调到位。眼屈光间质清,眼底正常。智力稍差,对答切题,其余各系统检查未见异常。头颅X线正侧位片:头颅呈尖头畸形,前后径及横径短,垂直径大,颅底低下,颅凹深而短,脑回压迹非常显著,呈鱼鳞状改变,颅壁薄,密度稍低,未见明显骨质破坏征象,蝶鞍稍增大,颅骨未见明显骨缝。根据患儿独特外观及头颅X线摄片临床诊断为颅面骨发育障碍综合征。患儿为第1胎…     

颈动脉海绵窦瘘的血管内栓塞治疗

<正> 颈动脉海绵窦瘘(CCFs)是颅内最常见的动静脉瘘,分外伤性和自发性两类.典型临床表现包括:①搏动性突眼,患侧眼球突出且呈搏动性,与心跳一致,眼球活动受限,严重时眼球固定,病人出现复视;②球结膜充血水肿,由于动脉血直接向海绵窦注,海绵窦及眼上静脉压力增高,眼球及其周围静脉回流受阻,发生球结膜充血水肿,眼睑外翻,严重影响外观形象,     

多发性颅面及四肢畸形一例

患儿男，１１岁。身高１４１ｃｍ，体重３８ｋｇ，坐高９０ｃｍ，头围５４ｃｍ。头颅矢状径明显大于冠状径，分别为２２ｃｍ和１６ｃｍ。额前突和枕后突，上颌前突，腭高拱，粘膜下腭裂和悬雍垂裂。眼距宽，眼裂小，右眼内斜视，双眼角外下斜。鼻根高而宽，鼻梁窄而平，鼻...     

眼眶内脑组织异位一例

患儿女,8个月。以右眼眶及颅底肿物于2003年1月8日收入院。6个月前（出生两个月时）患儿被发现右眼球突出及面颊部肿胀隆起。查体：患儿右眼球突出,球结膜隆起外翻,遮挡眼球,无触痛。CT扫描显示：右眶内肿物,球后积液（图1）。术中所见：肿物位于球后,颅外,与视神经无关联。肿物无明确的包膜,内含多量淡黄色透明液体和少量灰红相同半透明样物质。     

误诊为脑性瘫痪的婴儿佩梅病回顾性分析

目的 探讨佩梅病（PMD）被误诊为脑性瘫痪的原因、临床及基因突变特点、防范措施。方法 回顾性分析2例2017年7月至2019年12月收治曾误诊的PMD患儿的临床资料及基因突变情况,并复习相关文献进行总结。结果 2例患儿出生后均因运动发育落后曾误诊为脑性瘫痪。临床依据患儿发育落后呈渐进性发展伴眼球震颤,头颅MRI显示脑白质发育落后,髓鞘形成不良,基因突变显示PLP1基因重复半合子致病突变,通过基因型和临床表型分析,确诊2例患儿均为PLP1基因重复半合子突变导致的先天型PMD;两大家系中11名男性有类似精神神经症状,其中9人已死亡;家系中多名临床表型正常的女性为携带者,其中对2例携带者孕妇进行产前诊断,发现胎儿均存在PLP1基因重复突变,其中1胎儿为女性携带者,出生后随访1年未见异常,另1胎儿为男性,已终止妊娠。结论 临床出现生长发育落后呈渐进式发展,同时弥漫性脑白质受累,以及存在多名类似精神神经症状患者家族史的患儿应首先考虑PMD可能;PMD临床表现多变,基层临床及儿保医师对PMD的临床及头颅MRI影像学特征缺乏足够的认识,尤其是基层医院缺乏遗传代谢疾病检测手段是导致PMD误诊的主要原因...     

先天性软骨发育不全一家系四例

先证者(Ⅱ2) 女,43岁,身高130 cm.头颅增大,前额突出,嘴唇肥厚向外突;胸椎后突,腰椎前突,臀部后翘,关节处膨大,胸腔扁小,肋骨较常人短;躯干高度正常,四肢粗短,特别是双下肢短.走路姿态和四肢肌力正常,智力正常,能胜任日常工作.     

双胎连体头腹多发畸形一例

孪生死胎,均男性,头胸腹连体,呈左右拥抱状.重4100g,身长42cm,四肢、生殖器、肛门均发育良好.头颅显著增大,头围36cm,前后略扁,为前后双面部,共有四眼、一口及三耳.前面部:两眼球各居一眶内,眼睑闭.下方一鼻、两口及两侧耳均发育正常.后面部:两眼球共居正中眶内,眼睑微闭,下方相当于鼻口部位有一结状隆起,隆起下方有一耳廓,呈横位,     

Pelizaeus—Merzbacher综合征二例

Ｐｅｌｉｚａｅｕｓ－Ｍｅｒｚｂａｃｈｅｒ综合征二例彭坚冯秀英患儿男，３岁＋。因精神发育迟滞三年入院。患儿生后不会吸吮，４天后才吸奶。第８天睁眼发现眼球呈持续性、旋转性震颤并伴有头部无规律摆动，曾在当地做头颅ＣＴ检查，无异常发现，给予ＧＡＢＡ和针炙治疗...     

Monozygotic Twins with Ring Chromosome 22

Mentally retarded and monozygous twin sisters, with little physical abnormality, are described. Each twin carried a small ring chromosome, identified as a number 22.     

核DNA对Leber遗传性视神经病的影响

对一个同卵双生leber病家系成员mtDNA突变状况作基因分析，并比较同卵双生子及其同胞间症状差异。发现该家系母系成员mtDNA相同皆为突变纯合型，同卵双生子间症状相似，但与他们同胞间差异极大，这种差异是由核DNA不同所致，表明核DNA在该病形成过程中影响极大。     

Triple malaria infection in twin sisters from the Democratic Republic of Congo

Infections with 3 species of malaria parasites are rarely encountered and observed in less than 0.05% of cases. We came across such an infection in four year-old, monozygote twin sisters, coming from Kinshasa (Democratic Republic of Congo). In both of them, parasitemia was low or very low for P. falciparum and P. ovale and of 0.1-0.2% for P. malariae. The twin sisters presented with an iron deficiency anaemia, associated with an heterozygous sickle-cell anaemia and a moderate splenomegaly. The biological tests results were similar. They responded well to treatment. We point out the difficulty in recognizing the concomitant presence of several species of hematozoaire on blood smear.     

Monozygotic twins concordant for Rubinstein-Taybi syndrome

Monozygotic twin sisters from Qatar, concordant for the Rubinstein-Taybi syndrome, are described. Skeletal anomalies not previously seen in this syndrome are described. The mode of inheritance is reviewed.     

Ullrich-Turner syndrome in monozygotic twins

We report on the Ullrich-Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism. The literature on the Ullrich-Turner syndrome in twins is reviewed.     

Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene

We report on an X-linked agammaglobulinemia (XLA) family in which mothers of two affected cousins were monozygotic twins. We analyzed the Btk gene of several members in three generations of the family by SSCP analysis, DNA sequencing, and RFLP analysis following polymerase chain reaction-amplification of the individual exons. We identified a missense point mutation, G1817C (R562P), in exon 17 of the Btk gene in the affected cousins. The same mutation was also present in both mothers (twin sisters) of the cousins identifying them as carriers. However, the mutation was absent in all other relatives including the grandmother of the cousins (mother of the twin sisters). This strongly suggests that the mutation in the Btk gene had originated in one of the germ lines or in the zygote. This may be the first demonstration of a germ line (or zygotic) mutation in XLA.     

Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome

Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.     

Situs inversus with hypertrophic cardiomyopathy in identical twins

We describe identical twin sisters born to nonconsanguineous, healthy parents. Both twins had situs viscerum inversus and developed hypertrophic cardiomyopathy in adulthood.     

Diastrophic dysplasia: Extreme variability within a sibship

Three sibs were eventually diagnosed as having diastrophic dysplasia. The firstborn, a male, lacked many of the clinical manifestations and radiological abnormalities of the hands, such that the diagnosis of diastrophic dysplasia could not be made. Subsequently, his twin sisters were born with more severe skeletal involvement, but not many additional clinical findings, until one of his sisters (patient 2) developed a left ear cyst at age 2 months. Some cases of diastrophic dysplasia may be mild enough not to allow for a secure diagnosis, particularly in a neonate or infant occurring as the first affected person in the family. © 1996 Wiley-Liss, Inc.