• 제목/요약/키워드: Polydactyly

검색결과 33건 처리시간 0.03초

Townes-Brocks 증후군 1례 (A Case of Townes-Brocks Syndrome)

  • 소홍섭;최현주;윤혜선;황진순;손근찬
    • Clinical and Experimental Pediatrics
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    • 제46권4호
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    • pp.382-384
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    • 2003
  • 저자들은 항문 직장 기형, 손기형, 감각신경성 난청을 동반한 소이증, 일측성 신 무형성증을 증상으로 나타내고, 가족력이 없는 TBS 1례를 경험하였기에 보고하는 바이다.

누두흉의 수술적 교정 (Surgical Repair of Pectus Excavatum)

  • 조덕곤
    • Journal of Chest Surgery
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    • 제23권5호
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    • pp.1027-1034
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    • 1990
  • Pectus excavatum, commonest developmental anomaly of chest wall, is manifested by depression of the sternum and lower costal cartilages that is of surgical interest. From 1982 through 1990, fifteen patients have undergone surgery for treatment of pectus excavatum and treated by Ravitch operation: 5, Modified Ravitch operation; 4, Wada operation, 1 and Modified Wada operation, 5. There was familial history of pectus excavatum in 3 patients. Associated congenital anomaly were seen in 6 patients; scoliosis in 3 patients, right inguinal hernia in 1, polydactyly in 1 and patent ductus arteriosus in 1 patent. Postoperative minor complications were developed in 3 cases; pneumothorax, 2 cases; pleural effusion, 2 cases; wound infection and dehiscence, 1 cases; pressure sore due to strut malposition, 2 cases; flail chest and 2 cases; seroma. The incidence of the postoperative complications were more common in cases who were treated by metal strut, pin or other prosthetic materials for supporting the chest wall integrity than the standard corrective procedure. All cases have no recurrence of chest wall depression and operative death.

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Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development

  • Lee, Hankyu;Ko, Hyuk Wan
    • BMB Reports
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    • 제53권7호
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    • pp.367-372
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    • 2020
  • Cell cycle-related kinase (CCRK) has a conserved role in ciliogenesis, and Ccrk defects in mice lead to developmental defects, including exencephaly, preaxial polydactyly, skeletal abnormalities, retinal degeneration, and polycystic kidney. Here, we found that Ccrk is highly expressed in mouse trachea and bronchioles. Ccrk mutants exhibited pulmonary hypoplasia and abnormal branching morphogenesis in respiratory organ development. Furthermore, we demonstrated that Ccrk mutant lungs exhibit not only impaired branching morphogenesis but also a significant sacculation deficiency in alveoli associated with reduced epithelial progenitor cell proliferation. In pseudoglandular stages, Ccrk mutant lungs showed a downregulation of Hedgehog (Hh) signaling and defects in cilia morphology and frequency during progenitor-cell proliferation. Interestingly, we observed that activation of the Hh signaling pathway by small-molecule smoothened agonist (SAG) partially rescued bud morphology during branch bifurcation in explants from Ccrk mutant lungs. Therefore, CCRK properly regulates respiratory airway architecture in part through Hh-signal transduction and ciliogenesis.

Lmbr1 Expression in Early Embryo Development Stages in White Leghorn and Chinese Silky

  • Zhang, Ying;Xu, Weizhuo;Li, Ning
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권1호
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    • pp.7-12
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    • 2009
  • Lmbr1 is regarded as a key gene that controls the digital model formation in early developmental stages of the chicken. However, there are few reports of lmbr1 expression levels and tendencies in 4-toe and 5-toe chicken species. Therefore, the objective of this study was to compare the lmbr1 expression in White Leghorn (4-toe) and Chinese Silky (5-toe). Firstly, total RNA was extracted from 14 different embryonic development stages (HH3 to HH31) in White Leghorn and Chinese Silky. Secondly, dramatic gene expression changes of lmbr1 were monitored by RT-PCR, which indicated a general up-down-up tendency with subtle differences between these two species. Moreover, Q-PCR reactions were performed to quantitate the expression level of lmbr1 in the 14 selected developmental stages. These data demonstrated a first lmbr1 expression peak of 18.68 and 15.32, a lmbr1 expression trough of 6.61 and 1.80, and a second lmbr1 expression peak of 22.33 and 12.48 in White Leghorn and Chinese Silky, respectively. Finally, embryonic in situ hybridization analysis identified that lmbr1 expressed in the ectoderm in HH21, HH23 and HH24 developmental stages in both species.

심실중격결손증의 임상적 고찰 (clinical analyusis of ventricular septal defect)

  • 이승구
    • Journal of Chest Surgery
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    • 제19권2호
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    • pp.265-272
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    • 1986
  • We operated on 199 patients of VSD from 1976 to April l986. Among them, patients of VSD whose medical records were available were analyzed clinically. Operation on patients of VSD occupied 23.9% of total open heart surgery [832 cases] during those days. Of the 164 patients, 93 patients were male [56.7%]. 71 patients were female [43.3%]. Their age ranged from 6 months to 28 years and the mean age was 9.5 year and 82.2% of the patients were between 2 and 15 year of age. Of the patients, body weight below 10Kg were 19 cases. The most common complaints were frequent URI and DOE. On Kirklin`s anatomical classification, type II defect was most common [60.1%], type I [38.4%], combined type I+II, type III, combined type II+Ill and combined type II+IV in orders. Associated anomaly was found in 66 patients [42.5%>]. Pulmonary stenosis was most commonly associated cardiac anomaly [8.4%] and aortic insufficiency [7.1%], ASD, Lt. SVC and PDA in orders. There were extracardiac anomalies such as polydactyly, cleft palate, hypospadia and congenital aniridia, etc. Relationship between ventricular hypertrophy and defect size and cardiac cath. data was analyzed. The overall mortality was 7.0% [14 cases] and complication rate was 22.5% [35 cases].

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두피 피부 무형성증을 동반한 양막대증후군 1례 (A Case of Amniotic Band Syndrome Associated with Aplasia Cutis of the Scalp)

  • 이경연;김자형;오기원;정진영;박상규;김준성
    • Neonatal Medicine
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    • 제16권1호
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    • pp.85-88
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    • 2009
  • 저자들은 우측 다리와 겨드랑이의 협착고리, 우측 발의 만곡족, 척추 측만증, 좌측 엄지 손가락의 다지증, 우측 엄지 손가락 결여증과 더불어, 두피에 피부 무형성증이 동반된 양막대증후근 1례를 경험하였기에 문헌 괓ㄹ과 함께 보고하는 바이다.

Goltz 증후군 1례 (A Case of Goltz Syndrome)

  • 이동훈;박철한;박지민;박샛별;김흥식;류영욱;이규석;이희정
    • Clinical and Experimental Pediatrics
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    • 제46권6호
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    • pp.606-609
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    • 2003
  • 저자들은 특징적인 진찰 소견과 피부 조직 생검에서 제 I형 교원질 유전자 발현의 감소를 보인 Goltz 증후군 1례를 경험하였기에 보고하는 바이다.

Bilhaut-Cloquet 변법을 이용한 이열엄지의 교정 (Modified Bilhaut-Cloquet Method for Correction of Bifid Thumb)

  • 손형빈;손대구;김현지;김준형;한기환
    • Archives of Plastic Surgery
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    • 제33권4호
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    • pp.485-490
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    • 2006
  • Purpose: As the traditional treatment of the Wassel's type I or II of bifid thumb, Bilhaut-Cloquet, has always been the standard method despite several disadvantages such as tearing of the finger nail, injuries of the growth plate, joint instability, and long visible scarring. To overcome these drawbacks, we applied a modified Bilhaut-Cloquet Method. Methods: The subjects used for the this study were 10 of 20 patients evaluated. The patients underwent modified methods under every type of Wassel's classification. We designed a central wedge Zig-Zag incision and removed the nail and bony tissues in the remaining digit, but not soft tissue if possible, and transferred the ligaments, tendons, and soft tissue to the remaining thumb from the extra digit. We evaluated the patients' lack of extension, the total ROM of the MP and IP joints, the ROM of IP joints, and the lateral deviations of the reconstructed thumb. Results: The results were encouraging, with all patients showing a good functional and aesthetic outcome. Conclusion: The modified method proved a very effective procedure in the treatment of bifid thumb in all types, especially types I or II.

Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

  • Seo, Yeon Jeong;Lee, Ko Eun;Ko, Jung Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제12권1호
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    • pp.44-48
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    • 2015
  • Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

Case-control study of the treatment of postaxial polysyndactyly of the foot: Comparison of surgical results after removal of the fifth or sixth toe

  • Woo, Soo Jin;Kim, Byung Jun;Kwon, Sung Tack
    • Archives of Plastic Surgery
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    • 제48권1호
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    • pp.91-97
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    • 2021
  • Background In postaxial polysyndactyly of the foot, the choice of which toe to excise is controversial. It is often treated by resection of the fifth toe to save the lateral neurovascular bundles of the sixth toe. However, the sixth toe is often short and laterally deviated, which may require wedge osteotomy, potentially shortening the phalanx and compromising circulation. This study outlines an individualized method to spare the length and axis of the fifth toe in polysyndactyly with a short and deviated sixth toe. Methods We retrospectively analyzed 38 patients who underwent surgery between 2006 and 2019. The fifth toe was spared in 18 cases, and the sixth toe in 20 cases. The ratios of the forefoot width, angle difference, and toe length were compared between the affected and unaffected sides postoperatively. Complications and subjective judgments on cosmetic results were recorded and compared. Results No significant between-group differences were observed for sex, age at surgery, or the follow-up period. The forefoot width ratio did not significantly differ between the groups. However, the angle difference and toe length ratios showed significantly better results in the fifth toe-spared group than in the sixth toe-spared group (P<0.05 and P<0.01, respectively). There were no cases of impaired circulation, and subjective evaluations revealed satisfactory results in the fifth toe-spared group. Conclusions In cases with short and deviated sixth toes, sparing the fifth toe is an effective method of cosmetic treatment. The surgical results were satisfactory, with an improved appearance and no residual deformities.