• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.382-384
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• 2003

Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral renal agenesis.

• Journal of Chest Surgery
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• v.23 no.5
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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.

• BMB Reports
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• v.53 no.7
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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.

• Asian-Australasian Journal of Animal Sciences
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• v.22 no.1
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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.

• Journal of Chest Surgery
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• v.19 no.2
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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].

• Neonatal Medicine
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• v.16 no.1
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• pp.85-88
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• 2009

The amniotic band syndrome is an uncommon congenital fetal abnormality, presumably due to fetal entanglement in strands of ruptured amniotic sac. The defects caused by this syndrome vary from simple limb defects to major visceral and craniofacial defects. We cared for a newborn infant with this syndrome, who showed constriction rings of the right leg and right axilla, right club foot, thoracic scoliosis, polydactyly, absence of the right thumb and aplasia cutis of the scalp. We report this case with a brief review of the literature.

• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.606-609
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• 2003

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.

• Archives of Plastic Surgery
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• v.33 no.4
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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.

• Journal of Genetic Medicine
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• v.12 no.1
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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.

• Archives of Plastic Surgery
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• v.48 no.1
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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.