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Quoted phrase not found in phrase index: "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy"
Page 1
Associated anomalies in individuals with polydactyly.
Castilla EE, Lugarinho R, da Graça Dutra M, Salgado LJ. Castilla EE, et al. Am J Med Genet. 1998 Dec 28;80(5):459-65. doi: 10.1002/(sici)1096-8628(19981228)80:5<459::aid-ajmg5>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9880209
This associated proportion was minimal for postaxial (11.8%), intermediate for preaxial-I (20.0%), and maximal for rare polydactyly (54.9%). Duplication of the fifth toe plus syndactyly of fourth and fifth toes, as well as other syndactylies adjacent t …
This associated proportion was minimal for postaxial (11.8%), intermediate for preaxial-I (20.0%), and maximal for rare polydactyly ( …
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.
Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH locus have recently been described in patients with mild syndactyly and craniosynostosis. ...A fetus from a second pregnancy of the mother by a different spou …
Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH locus have recently been …
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Ehmke N, et al. Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. Am J Hum Genet. 2014. PMID: 25480037 Free PMC article.
Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated indiv …
Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinoda …
The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.
Schinzel A. Schinzel A. J Med Genet. 1988 May;25(5):332-6. doi: 10.1136/jmg.25.5.332. J Med Genet. 1988. PMID: 3385741 Free PMC article.
First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism …
First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocal …
Acrocallosal syndrome in fetus: focus on additional brain abnormalities.
Fernandez C, Soulier M, Coulibaly B, Liprandi A, Benoit B, Giuliano F, Sigaudy S, Figarella-Branger D, Fallet-Bianco C. Fernandez C, et al. Acta Neuropathol. 2008 Jan;115(1):151-6. doi: 10.1007/s00401-007-0249-y. Epub 2007 Jun 26. Acta Neuropathol. 2008. PMID: 17593378
Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly …
Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of t …
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW. Seo SH, et al. Ann Lab Med. 2013 Mar;33(2):150-2. doi: 10.3343/alm.2013.33.2.150. Epub 2013 Feb 21. Ann Lab Med. 2013. PMID: 23483675 Free PMC article.
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 first metacarpal can also be observed. ...
Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy …
A large family with type IV radial polydactyly.
Seyhan A, Akarsu N, Keskin F. Seyhan A, et al. J Hand Surg Br. 1998 Aug;23(4):530-3. doi: 10.1016/s0266-7681(98)80139-3. J Hand Surg Br. 1998. PMID: 9726561
Typical manifestations of the pedigree were bilateral radial and ulnar digital duplications, as well as syndactyly between the middle and ring fingers and the second and third toes. There was no craniofacial anomaly in any of the 17 cases examined physically. This …
Typical manifestations of the pedigree were bilateral radial and ulnar digital duplications, as well as syndactyly between the …