- A familial case with brachydactyly type C with a GDF5 mutation
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Yeh HR, Lee BH, Kim JH, Cho JH, Kim GH, Kim JM, Choi IH, Yoo HW
- KMID: 1737960
- J Genet Med.
- 2014 Jun;11(1):27-30.
- doi: 10.5734/JGM.2014.11.1.27
Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth... -
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- Treatment of Brachydactyly by Skeletal Lengthening
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Chung MS, Lee KH, Roe SG, Park MJ
- KMID: 2445213
- J Korean Orthop Assoc.
- 1989 Feb;24(1):85-93.
- doi: 10.4055/jkoa.1989.24.1.85
Twenty-two skeletal lengthenings were performed on eight patients with congenital or traumatic brachydactyly between February 1983 and June 1987. There were nine metacarpal, nine metatarsal and four proximal phalangeal lengthenings.... -
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- Poland Syndrome: A Case Report
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Jeong ST, Moon DK, Sung CM, Park HB
- KMID: 2101943
- J Korean Shoulder Elbow Soc.
- 2010 Jun;13(1):123-126.
PURPOSE: Poland syndrome is rare disease which is characterized by absence of unilateral pertoralis major muscle accompanied by ipsilateral syndactyly or brachydactyly, which was described first by Alfred Poland in... -
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- Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
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Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW
- KMID: 1781317
- Ann Lab Med.
- 2013 Mar;33(2):150-152.
- doi: 10.3343/alm.2013.33.2.150
Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the... -
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- Two Cases of Pseudohypoparathyroidism in Sibling
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You SY, Lee SY, Shin JH
- KMID: 1529892
- J Korean Soc Pediatr Endocrinol.
- 1997 Sep;2(2):255-262.
Pseudohypoparathyroidism(PHP) is an inherited metabolic disorder characterized by hypocalcemia, hyperphosphatemia and an impaired phosphaturic response to exogenous parathormone(PTH), which are caused by end organ resistance to the action of PTH.... -
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- A Case of Rothmund-Thomson Syndrome
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Kim BD, Kim YC, Kim SC
- KMID: 2086716
- Korean J Dermatol.
- 2003 Sep;41(9):1206-1209.
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, which is characterized by poikiloderma and photosensitivity with variable features including alopecia, sparse hair, short stature, skeletal abnormalities, juvenile cataracts, and an... -
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- Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
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Jang MA, Kim OH, Kim SW, Ki CS
- KMID: 2363219
- Ann Lab Med.
- 2015 May;35(3):387-389.
- doi: 10.3343/alm.2015.35.3.387
No abstract available. -
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- Multiple Brachymetacarpia Treated by Distraction Osteogenesis
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Bae IT, Park JK, Choi SM, Kim GJ
- KMID: 2383805
- J Korean Soc Surg Hand.
- 2017 Jun;22(2):122-126.
- doi: 10.12790/jkssh.2017.22.2.122
The treatment of a brachymetacarpia using a distraction osteogenesis was mostly single, unilateral pattern. In case of multiple brachymetacarpia, single-stage lengthening or rapid distraction lengthening with a bone graft were... -
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- Joubert syndrome with peripheral dysostosis: A case report of long term follow-up
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Kim JT, Kim SJ, Joo CU, Cho SC, Lee DY
- KMID: 2279255
- Korean J Pediatr.
- 2007 Mar;50(3):315-318.
- doi: 10.3345/kjp.2007.50.3.315
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements,... -
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- Myositis Ossificans Progressiva: A Case Report
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Chung IH, Han DY, Choi IY
- KMID: 2463786
- J Korean Orthop Assoc.
- 1973 Mar;8(1):56-58.
- doi: 10.4055/jkoa.1973.8.1.56
Myositis ossificans progressiva is a rare disease characterized by the formation of areas of calcification in the interstitial connective tissue of muscles, tendons, ligaments, fascia, and aponeuroses. There may be... -
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- Familial Brachmann-de Lange Syndrome with Dorsal Hypertrichosis
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Yoon HS, Lee SH, Eun HC, Kwon OS
- KMID: 2249386
- Korean J Dermatol.
- 2005 Oct;43(10):1413-1415.
Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases... -
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- Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
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Bae J, Choi HS, Park SY, Lee DE, Lee S
- KMID: 2420494
- Endocrinol Metab.
- 2018 Jun;33(2):252-259.
- doi: 10.3803/EnM.2018.33.2.252
BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman... -
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- 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
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Cho EK, Kim J, Yang A, Cho SY, Jin DK
- KMID: 2383909
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):129-132.
- doi: 10.6065/apem.2017.22.2.129
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a... -
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- A Case of Down-Turner Syndrome
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Jeong HJ, Lee ES, Choi KH, Park YH
- KMID: 2321988
- J Korean Soc Pediatr Endocrinol.
- 2005 Jun;10(1):120-124.
Down-Turner syndrome is a rare disease with the incidence of 1 in 2 million. Although Down syndrome with various Turner's karyotype were reported occasionally since a report in 1962, it... -
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- Osteoma Cutis as the Presenting Feature of Albright Hereditary Osteodystrophy Associated with Pseudopseudohypoparathyroidism
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Jeong KH, Lew BL, Sim WY
- KMID: 2219385
- Ann Dermatol.
- 2009 May;21(2):154-158.
- doi: 10.5021/ad.2009.21.2.154
Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with... -
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- A Case of Osteoma Cutis, a Diagnostic Clue for Albright's Hereditary Osteodystrophy
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Ryu DJ, Oh SH, Han EC, Bae BG, Lee JH
- KMID: 2247921
- Korean J Dermatol.
- 2009 Apr;47(4):435-438.
Albright's hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including short stature, flattened nasal bridge, round facies, obesity, skeletal anomalies of the hands with brachydactyly, osteoma cutis, mental... -
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- A Case of Pseudopseudohypoparathyroidism with Normal Stature
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Kim SR, Doh YJ, Kim HK, Moon SS, Lee JY, Jeon JH, Kim SW, Kim BW, Lee IK, Kim JG
- KMID: 1468510
- J Korean Endocr Soc.
- 2009 Jun;24(2):138-143.
- doi: 10.3803/jkes.2009.24.2.138
Pseudopseudohypoparathyroidism (PPHP) is characterized by the phenotype of Albright hereditary osteodystrophy (AHO) alone without biochemical evidence of multihormone resistance, which is unlike pseudohypoparathyroidism. AHO is associated with characteristic developmental abnormalities... -
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- A Case of Cutaneous Ossification occurring in Pseudohypoparathyroidism
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Ahn H, Kim KS, Kim IH, Song HJ, Cheon HW, Lee JW, Oh CH
- KMID: 2383037
- Ann Dermatol.
- 1999 Oct;11(4):263-266.
- doi: 10.5021/ad.1999.11.4.263
In Albright's hereditary osteodystrophy (AHO) including the syndromes of pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP), multiple areas of intracutaneous ossification are often encountered. The characteristic features are short stature, round face,... -
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- A Case of Pseudopseudohypoparathyroidism with Partial Empty Sella
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Koh JH, Lee Y, Choi JW, Hong TW, Kim MJ, Shin YG, Chung CH
- KMID: 2200532
- J Korean Soc Endocrinol.
- 2004 Aug;19(4):433-438.
Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same... -
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- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
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Park JM, Lee YJ, Park JS
- KMID: 2435949
- J Genet Med.
- 2018 Dec;15(2):97-101.
- doi: 10.5734/JGM.2018.15.2.97
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male... -
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