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Year Number of Results
1985 1
1989 2
1990 1
1992 2
1993 1
1994 1
1995 1
1996 1
1997 2
2000 1
2003 3
2004 1
2007 1
2008 8
2009 13
2010 12
2011 7
2012 1
2013 1
2015 1
2016 1
2018 1
2019 1
2024 0

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60 results

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Page 1
Disorders of prosencephalic development.
Volpe P, Campobasso G, De Robertis V, Rembouskos G. Volpe P, et al. Prenat Diagn. 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. Prenat Diagn. 2009. PMID: 19184971 Review.
The Greig cephalopolysyndactyly syndrome.
Biesecker LG. Biesecker LG. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Orphanet J Rare Dis. 2008. PMID: 18435847 Free PMC article. Review.
The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. ...Differential …
The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challe …
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.
Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S. Nakakimura S, et al. J Pediatr Surg. 2008 May;43(5):E13-7. doi: 10.1016/j.jpedsurg.2007.12.069. J Pediatr Surg. 2008. PMID: 18485929 Review.
It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). Herein, we report 2 cases--the first showed abnormality of the L1CAM genes and …
It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosa …
Acrocallosal syndrome: a case report and literature survey.
Hodgson BD, Davies L, Gonzalez CD. Hodgson BD, et al. J Dent Child (Chic). 2009 May-Aug;76(2):170-7. J Dent Child (Chic). 2009. PMID: 19619433 Review.
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. ...The purpose of this report was to describe the case of a 7-year-old male child with acrocallosal syndrome who presented with a cleft lip and …
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. ...The purpose of …
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.
Krajewska-Walasek M, Kugaudo M, Jędrzejowska M, Cieślikowska A, Ichkou A, Attié-Bitach T, Jezela-Stanek A. Krajewska-Walasek M, et al. Genet Couns. 2015;26(2):171-9. Genet Couns. 2015. PMID: 26349186 Review.
Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first de …
Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutane …
Xp-duplications with and without sex reversal.
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. Baumstark A, et al. Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. Hum Genet. 1996. PMID: 8557267 Review.
The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. ...
The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The seco …
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
Christensen B, Blaas HG, Isaksen CV, Roald B, Orstavik KH. Christensen B, et al. Am J Med Genet. 2000 Mar 20;91(3):231-4. doi: 10.1002/(sici)1096-8628(20000320)91:3<231::aid-ajmg15>3.0.co;2-w. Am J Med Genet. 2000. PMID: 10756349
Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. ...We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a m …
Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus cal …
Molecular genetic approaches to the study of human craniofacial dysmorphologies.
Moore GE. Moore GE. Int Rev Cytol. 1995;158:215-77. doi: 10.1016/s0074-7696(08)62488-2. Int Rev Cytol. 1995. PMID: 7721539 Review.
This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied using molecular biology techniques: DiGeorge syndrome, Treacher Collins syndrome, Greig cephalopolysyndactyly syndrome, acrocallosal …
This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied u …
60 results