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1987 1
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Page 1
Intracranial arachnoid cysts.
Ahmed AK, Cohen AR. Ahmed AK, et al. Childs Nerv Syst. 2023 Oct;39(10):2771-2778. doi: 10.1007/s00381-023-06066-0. Epub 2023 Jul 19. Childs Nerv Syst. 2023. PMID: 37466684 Review.
The underlying etiology is not entirely known, and they occur in greater proportion in males and in greater incidence with various genetic conditions including Down syndrome, mucopolysaccharidosis, schizencephaly, neurofibromatosis, autosomal dominant polycystic kidney dis …
The underlying etiology is not entirely known, and they occur in greater proportion in males and in greater incidence with various genetic c …
GLI3-related polydactyly: a review.
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. Al-Qattan MM, et al. Clin Genet. 2017 Nov;92(5):457-466. doi: 10.1111/cge.12952. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28224613 Review.
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. ...
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hal …
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 …
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 Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. ...Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome …
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. ...Differential diagno …
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 …
Acrocallosal syndrome: additional manifestations.
Casamassima AC, Beneck D, Gewitz MH, Horowitz MA, Woolf PK, Pettersen IM, Shapiro LR. Casamassima AC, et al. Am J Med Genet. 1989 Mar;32(3):311-7. doi: 10.1002/ajmg.1320320306. Am J Med Genet. 1989. PMID: 2658584 Review.
The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. ...
The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot ab …
Hypogenitalism in the acrocallosal syndrome.
Temtamy SA, Meguid NA. Temtamy SA, et al. Am J Med Genet. 1989 Mar;32(3):301-5. doi: 10.1002/ajmg.1320320304. Am J Med Genet. 1989. PMID: 2658583 Review.
We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. ...The acrocallosal syndrome is an autosomal recessive trait with variable expressivity. ...
We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. ...The a …
Diffusion MRI abnormalities in pediatric neurological disorders.
Utsunomiya H. Utsunomiya H. Brain Dev. 2011 Mar;33(3):235-42. doi: 10.1016/j.braindev.2010.08.015. Epub 2010 Sep 28. Brain Dev. 2011. PMID: 20880644 Review.
The clinical usefulness of these imaging techniques is then discussed using cases with pediatric neurological disorders, such as hypoxic-ischemic encephalopathy in neonates, trauma (shaken baby syndrome), encephalopathy or encephalitis in infants, posterior reversible ence …
The clinical usefulness of these imaging techniques is then discussed using cases with pediatric neurological disorders, such as hypoxic-isc …
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 …
26 results