Large rod-like photopic signals in a possible new form of congenital night blindness

A 10-year-old Persian girl has symptoms of congenital stationary night blindness and some drusen-like lesions in the region of the vascular arcades. Her electroretinogram shows no rod response to a weak stimulus, but a large (475 V) slow scotopic response to a strong stimulus that is unchanged by photopic conditions (15 F1 background illumination). However, the response to flicker had the typical (smaller) amplitude of a cone signal. This may represent a new form of night blindness in which rod sensitivity is reduced so that there is no vision under dim conditions but rod function still persists under photopic conditions.     

FG syndrome in a premature male

A 30-week premature male infant is presented with dolichocephaly, frontal bossing, down-slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.     

先天性高肩胛症的局部解剖特征及手术治疗

目的 :报道先天性高肩胛症的病理及局部解剖特征及其手术疗效。方法 :临床观察了 12例先天性高肩胛症软组织和骨骼的局部解剖特点 ,并采用肩胛骨上部切除和改良Woodward手术联合治疗。结果 :随访 12～ 3 0个月 ,肩胛骨下移 1～ 2肋间隙 ,平均 1.7肋间隙 ,肩部外观、肩关节功能均明显改善。结论 :先天性高肩胛症为软组织和骨骼的复合病变 ,联合手术可明显改善畸形和关节功能     

Gastrointestinal disorders in Down syndrome

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10‐year follow‐up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow‐up as well as adequate development and greater quality of life for patients with Down syndrome and their families.     

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency

Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2 deficiency. Here, we studied nine patients diagnosed with CMD who showed abnormal white-matter signal at brain MRI and partial deficiency of laminin alpha2 on immunofluorescence of muscle biopsy. We screened the entire 9.5 kb laminin alpha2 mRNA from patient muscle biopsy by direct capillary automated sequencing, single strand conformational polymorphism (SSCP), or denaturing high performance liquid chromatography (DHPLC) of overlapping RT-PCR products followed by direct sequencing of heteroduplexes. We identified laminin alpha2 sequence changes in six of nine CMD patients. Each of the gene changes identified, except one, was novel, including three missense changes and two splice-site mutations. The finding of partial laminin alpha2 deficiency by immunostaining is not specific for laminin alpha2 gene mutation carriers, with only two patients (22%) showing clear causative mutations, and an additional three patients (33%) showing possible mutations. The clinical presentation and disease progression was homogeneous in the laminin alpha2-mutation positive and negative CMD patients.     

Restriction fragment length polymorphisms of the CYP11B1 gene in the Japanese population

Summary Restriction fragment length polymorphisms (RFLPs) of the CYP11B1 gene were studied in Japanese using cDNA clone P450c11 as a probe. Genomic DNAs from 60 unrelated Japanese individuals were digested with 8 different restriction enzymes and analyzed by Southern blot hybridization. Two RFLPs were detected inMspI digests of the DNA. One(A) was characterized by polymorphic bands at 3.4 and 2.5 kilobasepairs (kb) and the other (B) by polymorphic bands at 1.7 and 1.2 kb. The third RFLP was observed inPvuII-digested samples and was polymorphic at 5.8 and 4.0 kb bands. Two of the three RFLPs found, RFLP (A) and (C), have not been described in the only previous report which was based on Caucasian samples. We also examined the RFLPs of a 3 generation family of 11-hydroxylase deficiency caused by an abnormality of the CYP11B1 gene. All the family members were homozygous in all three RFLPs and was thus not informative.     

以造影增强磁共振血管成像术诊断先天性主动脉弓畸形

目的评价造影增强磁共振血管成像术（CE-MRA）对先天性主动脉弓畸形的诊断准确性并与超声心动图等比较。方法413例先天性主动脉弓畸形病例在1999年4月到2004年12月期间做了CE-MRA检查。年龄5d～11岁，平均年龄2.4岁。检查使用1.5T磁共振扫描仪。对比剂gadolinium-DTPA，剂量0.2mmol／kg体质量，手动静脉注射。磁共振检查前均已做心脏超声检查。结果在413例中，动脉导管未闭（PDA）166例，主动脉缩窄（COA）168例，主动脉弓中断（IAA）31例，双主动脉弓等其他先天性主动脉弓畸形48例。全部413例均经手术和／或X线心血管造影证实。CE-MRA的诊断准确率为97.3％（402／413），心脏超声检查的诊断准确率为87.2％（360／413）。结论对于先天性主动脉弓畸形，CE-MRA是可靠的影像学检查方法，不仅优于心脏超声检查，有时CE-MRA甚至能比传统的X线心血管造影术提供更多的诊断信息。     

Retrospective analysis of fetal vertebral defects: Associated anomalies,etiologies, and outcome

Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte‐Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty‐six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty‐seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%–29.3%]). Fifty‐three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty‐four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non‐isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.     

先天性三尖瓣畸形及其功能影响

在１５６例先天性心血管畸形标本的观察和测量中，检出先天性三尖瓣畸形２５例（１６．０２％），其中Ｅｂｓｔｅｉｎ＇ｓ畸形６例，三尖瓣发育不良１４例，三尖瓣缺如１例，三尖瓣瓣叶或／和腱索骑跨４例。用测量及比较解剖学的方法探求三尖瓣畸形与其功能的影响。结果显示：Ｅｂｓｔｅｉｎ＇ｓ畸形和三尖瓣发育不良的心脏构筑都有明显的变化，而且两者存在一定的差异，同时明确了Ｅｂｓｔｅｉｎ＇ｓ畸形的病理诊断标准和三尖瓣发育不良的分类。     

Reciprocal translocation mosaicism in man

We report on an8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.