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45 results

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Page 1
Occipital horn syndrome: report of a patient and review of the literature.
Tsukahara M, Imaizumi K, Kawai S, Kajii T. Tsukahara M, et al. Clin Genet. 1994 Jan;45(1):32-5. doi: 10.1111/j.1399-0004.1994.tb03986.x. Clin Genet. 1994. PMID: 8149649 Review.
We report an 18-year-old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. ...The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib cage …
We report an 18-year-old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. …
Metabolic and molecular bases of Menkes disease and occipital horn syndrome.
Kaler SG. Kaler SG. Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. doi: 10.1007/s100249900011. Pediatr Dev Pathol. 1998. PMID: 10463276 Review.
Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal neurodevelopment, connective tissue problems, and often premature death. ...
Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal neurodevelopm …
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M, Baeke F, Hoebeke P, Plasschaert F, Loeys B, De Schepper S, Symoens S, Callewaert B. Beyens A, et al. Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528. Genes (Basel). 2019. PMID: 31336972 Free PMC article. Review.
Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. ...
Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper t …
ATP7A-Related Copper Transport Disorders.
Kaler SG, DiStasio AT. Kaler SG, et al. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301586 Free Books & Documents. Review.
CLINICAL DESCRIPTION: Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders caused by pathogenic variants in the ATP7A, the X-linked gene that encodes a copper-transporting ATPase. ...At each visit assess seizur …
CLINICAL DESCRIPTION: Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disor …
Disorders of heavy metals.
Woimant F, Trocello JM. Woimant F, et al. Handb Clin Neurol. 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. Handb Clin Neurol. 2014. PMID: 24365357 Review.
Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency o …
Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital …
Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.
Writzl K, Škrjanec Pušenjak M, Jus M, Maver A, Pečarič Meglič N, Peterlin B, Leonardis L. Writzl K, et al. Genes (Basel). 2025 Sep 15;16(9):1077. doi: 10.3390/genes16091077. Genes (Basel). 2025. PMID: 41010022 Free PMC article. Review.
Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. ...
Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), where …
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B. De Feyter S, et al. J Inherit Metab Dis. 2023 Mar;46(2):163-173. doi: 10.1002/jimd.12590. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36692329
Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome (OHS) that may further present with developmental delay and connective tissue manifestations. ...
Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome (OHS) …
Wilson disease and related copper disorders.
Lorincz MT. Lorincz MT. Handb Clin Neurol. 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. Handb Clin Neurol. 2018. PMID: 29325617 Review.
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy. Two important, nongenetic causes of copper defi …
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menke …
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature.
Mentzel HJ, Seidel J, Vogt S, Vogt L, Kaiser WA. Mentzel HJ, et al. Pediatr Radiol. 1999 Jan;29(1):19-22. doi: 10.1007/s002470050526. Pediatr Radiol. 1999. PMID: 9880610 Review.
We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysp …
We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occi …
45 results