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Quoted phrase not found in phrase index: "Multiple synostoses syndrome 4"
Page 1
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 …
New insights into craniosynostosis.
Flores-Sarnat L. Flores-Sarnat L. Semin Pediatr Neurol. 2002 Dec;9(4):274-91. doi: 10.1053/spen.2002.32504. Semin Pediatr Neurol. 2002. PMID: 12523552 Review.
New and other less common syndromes also are discussed. The differences between positional and synostotic plagiocephaly are important, as well as the cause of nonsyndromic craniosynostosis. The prognosis and neurological outcome of patients, including "benign" forms …
New and other less common syndromes also are discussed. The differences between positional and synostotic plagiocephaly are important …
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL. Miller WL. Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Sci Signal. 2012. PMID: 23092891 Review.
Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and found mild POR mutations in phenotypically normal adults with infe …
Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis as …
Another TWIST on Baller-Gerold syndrome.
Seto ML, Lee SJ, Sze RW, Cunningham ML. Seto ML, et al. Am J Med Genet. 2001 Dec 15;104(4):323-30. doi: 10.1002/ajmg.10065. Am J Med Genet. 2001. PMID: 11754069 Review.
Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. ...A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous paren …
Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. ...A nonsense mutation was found i …
Laurin-Sandrow syndrome: review and redefinition.
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Mariño-Enríquez A, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. doi: 10.1002/ajmg.a.32393. Am J Med Genet A. 2008. PMID: 18792985 Review.
We report on a newborn infant with characteristics of Laurin-Sandrow syndrome (LSS). She had hypertelorism, flat nose with grooved collumella, "V" shaped mouth with thin lips, 7 well-recognized and fused digits and 1 additional postaxial bilateral appendix on each hand. .. …
We report on a newborn infant with characteristics of Laurin-Sandrow syndrome (LSS). She had hypertelorism, flat nose with grooved co …
Central nervous system and cervical spine abnormalities in Apert syndrome.
Breik O, Mahindu A, Moore MH, Molloy CJ, Santoreneos S, David DJ. Breik O, et al. Childs Nerv Syst. 2016 May;32(5):833-8. doi: 10.1007/s00381-016-3036-z. Epub 2016 Feb 10. Childs Nerv Syst. 2016. PMID: 26861132
PURPOSE: Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. ...Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %). CONCLUSION: Multiple …
PURPOSE: Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence …
Treatment of apert syndrome: a long-term follow-up study.
Allam KA, Wan DC, Khwanngern K, Kawamoto HK, Tanna N, Perry A, Bradley JP. Allam KA, et al. Plast Reconstr Surg. 2011 Apr;127(4):1601-1611. doi: 10.1097/PRS.0b013e31820a64b6. Plast Reconstr Surg. 2011. PMID: 21187805
BACKGROUND: Patients with Apert syndrome have severe malformations of the skull and face requiring multiple complex reconstructive procedures. ...CONCLUSIONS: This report presents one of the longest available follow-up studies for surgical correction of patients wit …
BACKGROUND: Patients with Apert syndrome have severe malformations of the skull and face requiring multiple complex reconstruc …
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH. Baas M, et al. J Med Genet. 2021 Jun;58(6):362-368. doi: 10.1136/jmedgenet-2020-106948. Epub 2020 Jun 26. J Med Genet. 2021. PMID: 32591344 Free PMC article.
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a d …
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: fo …
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D. Bottero L, et al. Childs Nerv Syst. 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082. Childs Nerv Syst. 1997. PMID: 9224917 Review.
In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ea …
In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral r …
Executive Function and Adaptive Behavior in Muenke Syndrome.
Yarnell CM, Addissie YA, Hadley DW, Guillen Sacoto MJ, Agochukwu NB, Hart RA, Wiggs EA, Platte P, Paelecke Y, Collmann H, Schweitzer T, Kruszka P, Muenke M. Yarnell CM, et al. J Pediatr. 2015 Aug;167(2):428-34. doi: 10.1016/j.jpeds.2015.04.080. Epub 2015 May 28. J Pediatr. 2015. PMID: 26028288 Free PMC article.
STUDY DESIGN: Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. ...For the General Adaptive Composite of the ABAS-II, 28.2% of affected individuals scored in the 3rd-8th perc …
STUDY DESIGN: Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and thei …
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