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Quoted phrase not found in phrase index: "RAB23-related Carpenter syndrome"
Page 1
Polydactyly.
Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. Am J Obstet Gynecol. 2019. PMID: 31787158 No abstract available.
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C. Hidestrand P, et al. J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. J Craniofac Surg. 2009. PMID: 19165041
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.
Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impair …
Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis …
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L. Wémeau JL, et al. Hormones (Athens). 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. Hormones (Athens). 2013. PMID: 23624130 Free article. Review.
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K. Higurashi M, et al. Brain Dev. 1990;12(6):770-3. doi: 10.1016/s0387-7604(12)80004-0. Brain Dev. 1990. PMID: 2092586
Single cases of the following were observed: the Hallermann-Streiff syndrome, the Treacher-Collins syndrome, achondroplasia, arthrogryposis, the Beckwith-Wiedemann syndrome, the asplenia syndrome, the Klippel-Trenaunay-Weber syndrome, the Marfan syndrome, the Carpenter syndrome, …
Single cases of the following were observed: the Hallermann-Streiff syndrome, the Treacher-Collins syndrome, achondroplasia, arthrogryposis, …
Sudden death in a child with Carpenter Syndrome. Case report and literature review.
Ramos JM, Davis GJ, Hunsaker JC 3rd, Balko MG. Ramos JM, et al. Forensic Sci Med Pathol. 2009 Dec;5(4):313-7. doi: 10.1007/s12024-009-9128-2. Epub 2009 Nov 19. Forensic Sci Med Pathol. 2009. PMID: 19924577 Review.
Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical …
Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardat …
Cerebral malformations in Carpenter syndrome.
Taravath S, Tonsgard JH. Taravath S, et al. Pediatr Neurol. 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. Pediatr Neurol. 1993. PMID: 8352858
Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients....
Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination ma …
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T. Kondo D, et al. Brain Dev. 2018 Oct;40(9):760-767. doi: 10.1016/j.braindev.2018.05.003. Epub 2018 May 24. Brain Dev. 2018. PMID: 29803542
METHOD AND RESULT: Using Sanger sequencing, a hemizygous one base substitution designated c.627G > C, which is predicted to substitute asparagine for lysine at amino acid residue 209 (K209N), was identified in the siblings. The mother was heterozygous for this mutation. …
METHOD AND RESULT: Using Sanger sequencing, a hemizygous one base substitution designated c.627G > C, which is predicted to substi …
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