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91.
C. Dawn DeLozier Ray M. Antley Rick Williams Neil Green Richard M. Heller David Bixler Eric Engel John M. Optiz 《American journal of medical genetics. Part A》1980,7(3):391-403
Described here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results from a single embryonic defect, probably of genetic origin. The cardinal manifestations of this association are craniosynostosis, radiohumeral synostosis (RHS), and femoral bowing. Specific secondary defects include midface hypoplasia with characteristic facial appearance and ears, neonatal femoral fractures, and multiple minor anomalies of the limbs. Though the differential diagnosis includes such disorders as the campomelic syndrome, osteogenesis imperfecta (OI) and certain of acrocephalosyndactyly syndromes, the unique combination of clinical and radiographic abnormalities allows ready differentiation. The cause cannot be determined from these two cases. 相似文献
92.
Tayfun Bavbek Mehdi S. Ōgūt Haluk Kazokoglu 《Documenta ophthalmologica. Advances in ophthalmology》1993,83(4):313-322
Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies. One case included retinal detachment; another included an iris coloboma; and a third included iris, choroid and optic disk colobomas and retinal detachment with lens coloboma. The remaining two cases were without associated ocular anomalies. The pathogenic mechanisms and relationship of this defect with the differentiation of the tertiary vitreous and development of the zonule is discussed. The defect most likely occurs in the third to fourth months of gestation during differentiation of the tertiary vitreous in response to toxic, inflammatory or genetic factors. 相似文献
93.
94.
95.
先天性肺发育不全3例报道及文献复习 总被引:1,自引:0,他引:1
目的探讨先天性肺发育不全的临床特征。方法用回顾性方法分析先天性肺发育不全3例并献复习。结果先天性肺发育不全的原因可能与遗传、胚胎早期病毒感染等因素有关。通过X线、纤维支气管镜、CT检查及外科手术可确诊。结论先天性肺发育不全是一种少见病,病人易继发肺部感染,因此对反复呼吸系统感染的青少年要注意本病的可能。 相似文献
96.
97.
目的探讨囊肿切除、胆道重建治疗婴儿胆总管囊肿的疗效.方法1984年6月~1999年6月共有15例婴儿先天性胆总管囊肿患儿在我科接受了囊肿切除、胆道重建手术治疗,并对这些患儿进行了随访,随访资料包括症状、体征、B超.钡餐及肝功能检查.结果随访资料完整者12例,除1例术后3个月死于肝功能衰竭外,其余11例成活的患儿生长发育均正常;2例未行套叠瓣的患儿偶有上腹疼痛,但腹痛可自行缓解,钡餐检查见钡剂返流;全组病例肝功均正常,未见胆道结石、消化道溃疡、食道下端静脉曲张.结论囊肿切除、胆道重建治疗婴儿先天性胆总管囊肿可取得满意的疗效. 相似文献
98.
BUSKENS E.; GROBBEE D. E.; FROHN-MULDER I. M. E.; WLADIMIROFF J. W.; HESS J. 《European heart journal》1995,16(5):584-587
A concise overview of current knowledge on the aetiology ofcongenital heart disease is provided. At present, only 10 to20% of the cases occurring in neonates can be attributed toknown risk factors. Recurrence within relatives, chromosomalanomalies, genetic disorders, maternal diseases and teratogenexposure are addressed briefly; contemporary research modelsand methods, e.g. embryology and genetics and molecular biology,are referred to. A major innovation has been the introductionof the concept of common pathogenetic pathways. Thus, differentteratogenic factors or risk-factors may affect normal developmentat an identical stage and cause similar malformations. Also,the importance of timing of an event is stressed. If the timeframe of exposure does not coincide with embryogenesis any teratogeniceffect may be missed. Large-scale epidemiological studies on fetuses and neonateswith congenital heart disease are introduced as a third modeof research on the aetiology, although this approach is notused efficiently at present; cases of intra-uterine death canbe considered a valuable source of information that needs furtherattention. Combined, the above three lines of research may proveproductive, but the design of a comprehensive research projectwould need to be handled carefully. Possibilities for preventionof the occurrence of cardiovascular malformations are reported.Through lack of knowledge of causality, at present, only secondaryprevention may be possible and hence deserves attention. However,there appears to be no provision for thorough pre-natal screeningtests for congenital heart disease in an unselected population. 相似文献
99.
Hans-Heiner Kramer Michael Sommer Spyros Rammos Otto Krogmann 《European journal of pediatrics》1995,154(9):700-707
This study reports our experience with low-dose prostaglandin E1 (PGE1) treatment of 91 newborns with ductus dependent congenital heart disease (CHD). PGE1 efficacy, side-effects as well as the cardiovascular and respiratory profile of the patients were analysed. PGE1 doses > 0.02 g/kg per minute were used for only 5.3% of the total 23 656 h of treatment. The mean systolic blood pressures did not differ from the normal mean for patients with cyanotic CHD, while the diastolic values were lowered. Respiratory support was required only during 13.7% of the total treatment time. Apnoeas occurred in 21 (38%) of the 55 spontaneously breathing infants, who all had a cyanotic CHD. The incidence of apnoeas was lower during treatment with doses < 0.01 g/kg per minute. 相似文献
100.
Study of congenital duodenal obstruction 总被引:1,自引:0,他引:1
A study of 23 neonates with congenital duodenal obstruction is reported. Their mean gestational age was 38 weeks and mean
weight was 2.2 kg. Main clinical features observed were vomiting (100%), which was bilious in 74%, and epigastric fullness
with visible peristalsis (74%). Plain X-ray abdomen confirmed the diagnosis in 78%. Associated congenital malformations were
seen in 39% of cases. Eleven babies had an intrinsic defect, 11 had extrinsic defect and one baby had combination of intrinsic
and extrinsic defect. Malrotations along with band was seen in 39% of cases. Reported mortality was 39%. 相似文献