• Archives of Plastic Surgery
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• v.34 no.3
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• pp.406-408
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• 2007

Purpose: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. Methods: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. Results: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. Conclusion: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.

• Korean Journal of Veterinary Research
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• v.36 no.2
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• pp.283-287
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• 1996

An abnormal female Holstein calf with ectrodactyly of right hindlimb was observed macroscopically and radiographically, and the results were summarized as follows. 1. The central and fourth tarsal bones in the left hindlimb were separated. 2. The tarsus in the right hindlimb consisted of five pieces; the talus, calcaneus, central and first tarsal bones were separated, and the second, third and fourth tarsal bones were fused. 3. The large metatarsal bone in the right hindlimb was fused rudimentary fourth metatarsal bone and well developed third metatarsal bone. 4. The phalanges of the lateral(fourth) digit were absent in the right hindlimb.

• Korean Journal of Environment and Ecology
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• v.15 no.2
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• pp.153-158
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• 2001

영산강 수계의 습지생태계 모니터링의 일환으로 4개 지역을 선정하여 황소개구리 205개체를 채집하여 이들의 외부기형 출현율 및 양상을 조사하고 그들의 체내 조직에 축적된 중금속 농도를 분석하였다. 황소개구리의 기형 출현율은 6.8%로 다른 척추동물에서의 자연발생률 3%보다 높았으며, 기형은 모두 앞 또는 뒷발갉에서 나타났다. 유형별로 보면 결손(Ectrodactyly)이 64.3%로 가장 많았고 다음으로 확장(Dilation)이 28.6%, 절단(Truncation) 7.1%의 순이었다. 정상과 기형 개체간에 중금속의 농도를 조직별로 비교해 본 결과 기형개체의 신장에서 Mn은 4배, Zn 은 1.5배, Cu은 7배, Pb는 8배, Cd는 7배 정도 높았다. 또한 기형 개체에서는 이들 원소의 조직분포 패턴도 변화한 것으로 나타났다. 이러한 결과들로부터 황소개구리는 습지생태계의 모니터링 시료로서 유용하게 이용될 수 있음을 알 수 있었다.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.123-127
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• 2015

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.