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209 results

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Page 1
ROR2-Related Robinow Syndrome.
Bacino CA. Bacino CA. 2005 Jul 28 [updated 2019 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Jul 28 [updated 2019 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301418 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. ...DIAGNOSIS/TESTING: The diagnosis of ROR2-related Robinow syndrome is established in a proband …
CLINICAL CHARACTERISTICS: ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnorm …
Autosomal Dominant Robinow Syndrome.
Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Roifman M, et al. 2015 Jan 8 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2015 Jan 8 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 25577943 Free Books & Documents. Review.
When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased …
When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with ost …
Robinow syndrome.
Patton MA, Afzal AR. Patton MA, et al. J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. J Med Genet. 2002. PMID: 12011143 Free PMC article. Review.
The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2....
The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal domina …
50 years of Robinow syndrome.
Mazzeu JF, Brunner HG. Mazzeu JF, et al. Am J Med Genet A. 2020 Sep;182(9):2005-2007. doi: 10.1002/ajmg.a.61756. Epub 2020 Jul 21. Am J Med Genet A. 2020. PMID: 32691531 No abstract available.
Robinow Syndrome: A Rare Diagnosis from Pakistan.
Hameed M, Tariq SM, Hanif H. Hameed M, et al. J Coll Physicians Surg Pak. 2023 Jan;33(1):116-117. doi: 10.29271/jcpsp.2023.01.116. J Coll Physicians Surg Pak. 2023. PMID: 36597249
Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS. Conlon CJ, et al. Am J Med Genet A. 2021 Dec;185(12):3606-3612. doi: 10.1002/ajmg.a.61986. Epub 2020 Nov 25. Am J Med Genet A. 2021. PMID: 33237614
Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. ...A total of 13 patients with clinical and molecular diagnoses consistent with either dominant Robinow syndrome (DRS) or recessive Robinow …
Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. ...A total of 13 patien …
Obstetrical Challenges in Robinow Syndrome.
Zhang Y, Casanova M, Shanahan M, Sutton VR, Fox K. Zhang Y, et al. Case Rep Obstet Gynecol. 2022 Jul 22;2022:6481517. doi: 10.1155/2022/6481517. eCollection 2022. Case Rep Obstet Gynecol. 2022. PMID: 35909981 Free PMC article.
Robinow syndrome is a genetically heterogenous syndrome that exhibits great pleiotropy, involving skeletal genital, cardiac, and craniofacial developmental anomalies. ...Similar to other more common skeletal dysplasias and growth disorders such as achondroplasia, th …
Robinow syndrome is a genetically heterogenous syndrome that exhibits great pleiotropy, involving skeletal genital, cardiac, a …
Robinow syndrome.
Hosalkar HS, Gerardi J, Shaw BA. Hosalkar HS, et al. J Postgrad Med. 2002 Jan-Mar;48(1):50-1. J Postgrad Med. 2002. PMID: 12082331 Free article. No abstract available.
Extremity anomalies associated with Robinow syndrome.
Abu-Ghname A, Trost J, Davis MJ, Sutton VR, Zhang C, Guillen DE, Carvalho CMB, Maricevich RS. Abu-Ghname A, et al. Am J Med Genet A. 2021 Dec;185(12):3584-3592. doi: 10.1002/ajmg.a.61884. Epub 2020 Sep 25. Am J Med Genet A. 2021. PMID: 32974972
Robinow syndrome, a rare genetic disorder, is characterized by skeletal dysplasia with, among other anomalies, extremity and hand anomalies. ...A total of 13 patients with clinical and molecular diagnosis consistent with dominant Robinow syndrome or re …
Robinow syndrome, a rare genetic disorder, is characterized by skeletal dysplasia with, among other anomalies, extremity and h …
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F, Avendaño A, Callea M. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. Arch Argent Pediatr. 2018. PMID: 30457727 Free article. Review. English, Spanish.
However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/B …
However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial …
209 results

Searches related to "robinow syndrome"