Clinical Study of 31 Polydactyly Cases Admitted to Neonatal Intensive Care Unit

( Yongwook Lee ),( Mihyeon Gang ),( Meayoung Chang ),( Wungjoo Song ),( Sookza Kim ) 대한주산의학회 2019 Perinatology Vol.30 No.3

Objective: To investigate polydactyly in neonates who were admitted to neonatal intensive care unit (NICU) due to urgent medical needs. Methods: Retrospective chart review of polydactyly neonates admitted to NICU of Chungnam National University Hospital between September 1997 and September 2018 was carried out. Patient data, type of polydactyly accompanying anomalies, genetic testing and clinical follow-up after discharge were reviewed and analyzed. Results: Thirty-one neonates with polydactyly were admitted to NICU during the selected period. 61.3% were male. Most were admitted for the evaluation and treatment for other congenital anomalies. Ten neonates (32%) were small for gestational age. The most frequently observed forms of polydactyly were preaxial hand polydactyly and postaxial foot polydactyly. Cardiac anomalies (35%) were more frequent in the population than genitourinary tract anomalies (22%), central nervous system anomalies (22%), gastrointestinal tract anomalies (19%) and congenital hypothyroidism. Four neonates showed abnormal genetic finding. Three neonates were diagnosed syndromic disorder after discharge (CATCH22 syndrome, VACTERL association, Joubert syndrome). Pregnancy of these neonates was complicated by maternal diabetes (13%), hepatitis B virus (6%), exposure to herbal medicine or smoking (6%), pre-eclampsia and hypertension. Only one case in the study had positive family history for polydactyly. Conclusion: Polydactyly could serve as a clue to syndromes and genetic disorders if associated with multiple major organ anomalies.

엄지손가락의 다지증과 세마디가락증의 빈도

이정민,황건,김유진,정성균,전영준,김선구,이세일 대한성형외과학회 2009 Archives of Plastic Surgery Vol.36 No.4

Purpose: Preaxial polydactyly is the most common congenital anomaly of upper extremities. In this study, we classified 112 patients of preaxial polydactyly for investigation of recent incidences of each types. Methods: We reviewed 120 cases of preaxial polydactyly diagnosed at university hospitals of Incheon and Bucheon from 2000 to 2008. All cases were grouped using simple radiographs and all cases were classified according to the Upton modified Iowa system. Results: Among the 120 cases of preaxial polydactyly, 7 cases(6%) were in type I polydactyly, 35 cases(29%) type II, 1 case(1%) type III, 48 cases(40%) type IV, 12 cases(10%) type V, 5 cases(4%) type VI, 12 cases(10%) type VII, respectively. All cases in type VII polydactyly were triphalangism. Conclusion: Comparing with Wassel’s study and Upton’s study, our study showed similar distribution of each types of preaxial polydactyly.

흔적 다지증 1예

천상진 ( Sang-jin Cheon ),진현주 ( Hyunju Jin ),류향석 ( Hyang-suk You ),심우행 ( Woo-haing Shim ),김정민 ( Jeong-min Kim ),김건욱 ( Gun-wook Kim ),김훈수 ( Hoon-soo Kim ),고현창 ( Hyun-chang Ko ),김병수 ( Byung-soo Kim ),김문범 ( 대한피부과학회 2018 大韓皮膚科學會誌 Vol.56 No.3

Rudimentary polydactyly is a congenital anomaly of the hand clinically ranging from a small wart-like tumor to a pedunculated structure near the thumb or little finger. The histology reveals a marked neural proliferation, dilated blood vessels, and some Meissner corpuscles in the dermis. The etiology is unknown and there are a few theories. First, Hare believed that it represented a vestigial form of supernumerary finger, and termed it rudimentary polydactyly. Since then, Shapiro et al. has argued that rudimentary polydactyly is an amputation neuroma after finding histological similarity between acquired traumatic neuroma and rudimentary polydactyly. Recently Brehmer- Andersson et al. asserted that rudimentary polydactyly is a neuroma that can arise in any area containing Meissner corpuscles after observing a penile lesion with similar histology as rudimentary polydactyly. We report a case of rudimentary polydactyly characteristically not showing any prominent Meissner corpuscles. With this case, we provide support for the theory of Shapiro et al. (Korean J Dermatol 2018;56(3):202∼205)

A model system for polydactyly; The Korean Ogye

김은정,김재우,David William Green,정한성 대한구강해부학회 2015 대한구강해부학회지 Vol.36 No.1

Polydactyly, the addition of one or more extra digits, occurs in various vertebrates as well as in humans with prevalence ranging from 5 to 19 per 10,000 live births1,2). This common malformation has a genetic cause and was one of the earliest genetic mutations studied in chicken3). Furthermore, polydactyly relates to the phenotype found in many domestic chicken breeds including Dorking, Silkie, and Sultan. Autosomal inheritance is shown in polydactyly of chicken with incomplete penetrance 4). One proposal is that it is controlled by more than one gene5). Sonic hedgehog (Shh) is a principal master regulator determining the digit number and identity in the vertebrate limbs. Shh is expressed in posterior region of mesenchyme, known as the zone of polarizing activity (ZPA) in the limb bud. Shh is a key morphogen at the anterior-posterior limb axis in early embryogenesis6,7). Intrinsic regions of Lmbr1 (a ZPA regulatory sequence, ZRS), which is located 1Mb upstream of Shh, regulate Shh expression in the ZPA. Mutations in intron3 of LMBR1 are associated with ectopic Shh expression in the limb and / or polydactyly in chickens7-10). Along with this, deletion of intron 5 of LMBR1 (1654 bp) causes oligozeugodactyly (loss of posterior element of zeugopod along with all digits except digit1 in the leg) for Silkie11). The Silkie has polydactylous feet and expresses ectopic Shh as well as the expression of genes downstream of Shh signaling, Hoxd13 and Bmp2, in the anterior leg bud from stage 25 Hamburger and Hamilton (HH) stages12). Korean Ogye, which has been mis-named as Korean Native Ogol chickens, is a species protected by the Korean government (Protected Species Act No. 265), and has been studied at genetic and population levels13-15). Korean Ogye has black feathers, as well as black bones, skin, eye, and claws. It has been known that purebred of Korean Ogye has four toes with no fine furs, whereas mixed Korean Ogye expresses polydactyly with 5-6 toes with fine furs. This study aims to reveal the phenotype and genetic expressions related to Korean Ogye polydactyly.

한국인의 선천성 다지증 및 합지증의 출생시 발생률 추정

김도현,박수경,김동철,오석준,유근영 대한성형외과학회 2003 Archives of Plastic Surgery Vol.30 No.1

Introduction: The aim was to estimate the incidence at birth of congenital polydactyly and syndactyly to use medical utilization database of the National Health Insurance Corporation in Korea. Material & Method: Base population are selected from the children born in 1994(n=728,515). The diseases were identified by disease code system; ICD-9 755(Other congenital limb-anomalies), ICD-10 Q69(Polydactyly), ICD-10 Q70(Syndactyly), ICD-10 Q66(Other congenital feet-deformities), ICD-10 Q74(Other upper limb-anomalies). The suspicious cases of polydactyly and syndactyly are selected from the base population with those criteria(n=3,497). The 669 cases, 16 university hospitals and 16 hospitals have been examined the name and location of anomaly through medical record review. The diagnostic accuracy by Disease-code system was calculated. The incidence rate at birth was estimated by the class of polydactyly/syndactyly, adjusted for the diagnostic accuracy.Result: The incidence per 100,000 birth are estimated; at hand, polydactyly, 93(95% confidence interval 86-100), syndactyly, 29(25-33), polysyndactyly, 13(11- 16); at foot, polydactyly, 40(36-45), syndactyly, 22(19- 26), polysyndactyly, 14(12-17); at multifocal area(hand & foot), polydactyly, 1(0.6-2), syndactyly, 2(0.9-3), polysyndactyly, 3(2-4).Conclusion: These incidence rates may be underestimated and show the minimum incidence rates. The incidences must be discussed in comparison with incidences through registry or prospective follow-up study of congenital anomalies.

多指症의 臨床的 硏究

류봉수,곽승호,김환익,이삼용,조백현 大韓成形外科學會 1993 Archives of Plastic Surgery Vol.20 No.4

수무지 다지증 치료 후 발생한 2차적 변형의 교정

이영호,탁관철,김영진 大韓成形外科學會 1994 Archives of Plastic Surgery Vol.21 No.3

Polydactyly is one of the most common congenital anomaly of the hand. among the polydactyly deformities, duplicated thumb, namely preaxial polydactyly is most frequently occuring. The incidence of polycactyly is generally considered to be 1 per 10,000 live births. The principal goal of correction of preaxial polydactyly is the accurate establishment of the longitudinal skeletal axis so to maintain adequate opposition & flexion of thumb. However the simple removal of extradigit results in functional or cosmetic deformities, particulary angulation or rotational deformity and joint instability. Therefore it is essential to narrow the widened proximal articular surface, reconstruct collateral ligaments, transfer the insertion site of intrinsic muscle and centralize the extrinsic flexor and extensor tendons at the time of extradigit removal. Late angular deformity and instability may require further ligament reconstruction, corrective osteotomy and release of skin contracture by Z-plasty or rotation skin flap. Authors experienced 9 cases of secondary angulation deformity of the preaxial polydactylies. The secondary deformities were corrected by ostectomy, reconstruction of collateral ligaments and soft tissue release using Z-plasties with good functional and aesthetic results.

多指症의 臨床的 考察

류봉수,곽승호,김환익,이삼용,조백현 大韓成形外科學會 1993 Archives of Plastic Surgery Vol.20 No.4

반복성 단늑골 다지 증후군 1예

방성윤,최규연,박은희,강미경,김미경,이정재,이임순 순천향의학연구소 2005 Journal of Soonchunhyang Medical Science Vol.11 No.1

Short-rib polydactyly syndromes(SRPS) comprise a group of rare, generally lethal skeletal dysplasias. This group is manifested by short-limb short stature, short ribs with thorasic hypoplasia, and polydactyly. This heterogenous group of recessively inherited disorder has distinct imaging findings and ancillary findings on both pre-and postnatal assessments may enable individual cases to be classified into one of four subtypes : SRPS Ⅰ(Saldino-Noonan); SRPS Ⅱ (Majewski); SRPS Ⅲ (Verma-Naumoff); and SRPS Ⅳ (Beemer-Langer)1,2,3). All forms of the SRPS described to date are thought to be inherited in an autosomal recessive manner. There are difficulties in the clssification of these disorders because of the frequent overlap. We experienced one case of recurrent short-rib polydactyly syndrome and presented with review of literature.

Surgical outcomes of untreated congenital polysyndactyly of the foot in adult patients

Soo Jin Woo,Jinil Choi,허주용,권성택,김병준 대한수부외과학회 2022 대한수부외과학회지 Vol.27 No.2

Purpose: Polydactyly of the foot is a common congenital anomaly. The goal of surgery for polydactyly is to increase similarity to the contralateral foot, with a well-aligned arcade of toes that allows patients to wear normal footwear and ambulate painlessly. Foot appearance is especially important in Asian countries where people remove their shoes indoors. This study reviewed the surgical results in patients who underwent surgery for correction of untreated foot polydactyly after the age of 18 years. Methods: We retrospectively analyzed the data of 11 patients who underwent surgery between 2006 and 2019. The forefoot width, angulation difference, and toe length ratios between the affected and unaffected feet were compared before and after the operation. In addition, the purpose of the surgery and postoperative cosmetic satisfaction were collected for each patient. Results: The median age at the time of the operation was 25 years (interquartile range, 22–32 years) and most patients presented with postaxial polydactyly. The primary reasons to undergo surgery were both functional and cosmetic. The forefoot width and angle difference ratios became significantly more similar to the contralateral side postoperatively (p<0.05). No significant difference was found in the toe length ratio. Postoperative Global Aesthetic Improvement Scale scores showed satisfactory results. Conclusion: The main reasons for surgery in adulthood included the diverse consequences of functional and cosmetic aspects of the anomaly. Surgery for patients with untreated polydactyly of the foot can yield satisfactory objective and subjective results regardless of the intervention timing.