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Quoted phrase not found in phrase index: "Symphalangism affecting the phalanges of the toes"
Page 1
Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.
Chen W, Tian X, Chen L, Huang W. Chen W, et al. J Orthop Surg Res. 2021 Feb 8;16(1):121. doi: 10.1186/s13018-020-02196-2. J Orthop Surg Res. 2021. PMID: 33557883 Free PMC article.
Multiple-toe involvement was 2.01-times more frequent than single-toe involvement. All five toes were involved with midline toes being most frequently affected overall and a medial distribution being more common than a lateral one. The forefoot was affecte …
Multiple-toe involvement was 2.01-times more frequent than single-toe involvement. All five toes were involved with midline toes …
Characteristics of the limb malformations induced by maternal exposure to cadmium in the mouse.
Padmanabhan R, Hameed MS. Padmanabhan R, et al. Reprod Toxicol. 1990;4(4):291-304. doi: 10.1016/0890-6238(90)90041-s. Reprod Toxicol. 1990. PMID: 1726510
Ectrodactyly, postaxial polydactyly, syndactyly, brachydactyly, adactyly, phocomelia, meromelia, and malrotation of the limbs were detected in a significant number of fetuses. ...Malrotation of the limbs together with edema and caudal narrowing resulted in a 'penguin-like' …
Ectrodactyly, postaxial polydactyly, syndactyly, brachydactyly, adactyly, phocomelia, meromelia, and malrotation of the limbs were de …
Macrodystrophia lipomatosa: radiographic observations.
Gupta SK, Sharma OP, Sharma SV, Sood B, Gupta S. Gupta SK, et al. Br J Radiol. 1992 Sep;65(777):769-73. doi: 10.1259/0007-1285-65-777-769. Br J Radiol. 1992. PMID: 1393412
Typical findings were hypertrophy of all the mesodermal tissues of the affected digits with dramatic overgrowth of fat. Phalanges were enlarged both in length and transverse diameter, but the trabecular pattern was maintained. ...In a few cases the forearm and leg w …
Typical findings were hypertrophy of all the mesodermal tissues of the affected digits with dramatic overgrowth of fat. Phalanges …
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J. Fu Y, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2319. doi: 10.1002/mgg3.2319. Epub 2023 Nov 27. Mol Genet Genomic Med. 2024. PMID: 38013226 Free PMC article. Review.
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypopla …
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in …
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N. Kantaputra PN, et al. Am J Med Genet. 2002 Apr 15;109(1):56-60. Am J Med Genet. 2002. PMID: 11932993
A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits. ...Distal symphalangism was …
A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges o …
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V. Alessandri JL, et al. Am J Med Genet A. 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327. Am J Med Genet A. 2010. PMID: 20358613
All children also presented with a combination of brachydactyly with agenesis of the middle phalanges, syndactyly, broad thumbs, and postaxial polydactyly (2/4) in the hands, and preaxial polydactyly (3) and syndactyly (4) in the toes. ...We conclude f …
All children also presented with a combination of brachydactyly with agenesis of the middle phalanges, syndactyly, broad thumb …
Osteogenesis imperfecta: a case with hand deformities.
Oz B, Olmez N, Memis A. Oz B, et al. Clin Rheumatol. 2005 Sep;24(5):565-8. doi: 10.1007/s10067-005-1087-8. Epub 2005 Apr 23. Clin Rheumatol. 2005. PMID: 15856364
She had bilateral flexion contracture of the elbows which occurred following dislocations of the elbows in childhood. She had Z deformity of the first phalanges, reducible swan-neck deformity of the third finger of the left and the second finger of the right …
She had bilateral flexion contracture of the elbows which occurred following dislocations of the elbows in childhood. She had Z deformity of …
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. Afzal M, et al. Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27. Eur J Med Genet. 2017. PMID: 28559208
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. ...Here w …
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous …
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. Sayli BS, et al. J Med Genet. 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. J Med Genet. 1995. PMID: 7666393 Free PMC article.
Variations in the involvement of one or both hands, upper or lower extremities, bone and soft tissue, as well as variation in the affected subjects of two successive generations were documented. We also noted that metacarpal and metatarsal involvement and middle phalang …
Variations in the involvement of one or both hands, upper or lower extremities, bone and soft tissue, as well as variation in the affecte …
The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.
Kopyść Z, Stańska M, Ryzko J, Kulczyk B. Kopyść Z, et al. Hum Genet. 1980;56(2):195-204. doi: 10.1007/BF00295694. Hum Genet. 1980. PMID: 7450776
The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, a …
The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrach …