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Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.
Gardner MA, Li BC, Wu YW, Slavotinek AM. Gardner MA, et al. Pediatr Neurol. 2012 Dec;47(6):455-7. doi: 10.1016/j.pediatrneurol.2012.08.009. Pediatr Neurol. 2012. PMID: 23127269
A clinical diagnosis of cleidocranial dysostosis was confirmed by testing of the RUNX2 gene, which revealed a novel sequence alteration predicted to be disease-causing. Given that no palpable bone overlay the location of brain hemorrhage, and no other cause for hemorrhage …
A clinical diagnosis of cleidocranial dysostosis was confirmed by testing of the RUNX2 gene, which revealed a novel sequence alteration p …
Novel complex disease allele mutations in cleidocranial dysplasia patients.
Anthonappa RP, Yan-Hui F, King NM, Rabie AB, You-Qiang S. Anthonappa RP, et al. J Oral Pathol Med. 2014 Nov;43(10):798-800. doi: 10.1111/jop.12198. Epub 2014 Jun 16. J Oral Pathol Med. 2014. PMID: 24935264
Multiple sequence alignment and protein structure modeling was performed using ClustalW2 and MODBASE software while PolyPhen-2 and MutationTaster applications were employed to predict the disease-causing potential of the identified mutations. ...
Multiple sequence alignment and protein structure modeling was performed using ClustalW2 and MODBASE software while PolyPhen-2 and MutationT …
Ischio-vertebral dysplasia: a distinct entity.
Cohen PA, Kalifa G, Donoghue V, Adamsbaum C, Haddad F, Dubousset J. Cohen PA, et al. Pediatr Radiol. 1999 Feb;29(2):131-4. doi: 10.1007/s002470050556. Pediatr Radiol. 1999. PMID: 9933334
Posterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report.
Nagasaka S, Suzuki K, Saito T, Tanaka K, Yamamoto J. Nagasaka S, et al. Childs Nerv Syst. 2021 Feb;37(2):683-686. doi: 10.1007/s00381-020-04689-1. Epub 2020 Jun 5. Childs Nerv Syst. 2021. PMID: 32504170
Our patient, who had a family history of CCD, developed apnea and vomiting shortly after birth; PFSDH was detected by head computed tomography, and the patient recovered well following standard medical treatment. CONCLUSION: The prognosis of intracranial hemorrhage in neon …
Our patient, who had a family history of CCD, developed apnea and vomiting shortly after birth; PFSDH was detected by head computed tomograp …