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Paclitaxel use in pregnancy: neonatal follow-up of infants with positive detection of intact paclitaxel and metabolites in meconium at birth.
Cardonick EH, O'Laughlin AE, So SC, Fleischer LT, Akoto S. Cardonick EH, et al. Eur J Pediatr. 2022 Apr;181(4):1763-1766. doi: 10.1007/s00431-021-04260-3. Epub 2022 Jan 23. Eur J Pediatr. 2022. PMID: 35066626
Three anomalies occurred: mild hip dysplasia without further treatment and mitral valve stenosis. The third child was diagnosed with Cleidocranial Dysostosis, a familial anomaly. Mean age at pediatric follow-up is 18.7 + 9.3 months. ...CONCLUSION: Up to 3 years of a …
Three anomalies occurred: mild hip dysplasia without further treatment and mitral valve stenosis. The third child was diagnosed with Clei …
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
We present a case of intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis, a skeletal dysplasia that leads to delayed skull ossification. ...A clinical diagnosis of cleidocranial dysostosis was confirmed by testing of the RUNX2 gene, …
We present a case of intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis, a skeletal dysplasia that leads t …
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
MATERIALS AND METHODS: All patient cases (aged 1 day to 33 years) were selected according to the above criteria, with special attention to radiological findings, family history and follow-up (5-30 years). RESULTS: In all eight patients, we observed the following: (a) Sever …
MATERIALS AND METHODS: All patient cases (aged 1 day to 33 years) were selected according to the above criteria, with special attention to r …
The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis.
Lossdörfer S, Abou Jamra B, Rath-Deschner B, Götz W, Abou Jamra R, Braumann B, Jäger A. Lossdörfer S, et al. J Orofac Orthop. 2009 Nov;70(6):495-510. doi: 10.1007/s00056-009-9934-x. Epub 2009 Dec 4. J Orofac Orthop. 2009. PMID: 19960292 English, German.
CONCLUSIONS: These data indicate that PDL cells from CCD patients express a less distinctive osteoblastic phenotype resulting in an impaired ability to support osteoclastogenesis which might, in part, account for the delayed tooth eruption that can be observed clinically.. …
CONCLUSIONS: These data indicate that PDL cells from CCD patients express a less distinctive osteoblastic phenotype resulting in an impaired …
Histological and analytical studies of a tooth in a patient with cleidocranial dysostosis.
Fukuta Y, Totsuka M, Fukuta Y, Takeda Y, Yoshida Y, Niitsu J, Yamamoto H. Fukuta Y, et al. J Oral Sci. 2001 Jun;43(2):85-9. doi: 10.2334/josnusd.43.85. J Oral Sci. 2001. PMID: 11515602
A histopathological and analytical study of a permanent tooth from a patient with cleidocranial dysostosis (CCD) was performed. The patient was a 47-year-old woman, who had 10 erupted permanent teeth and 2 partially erupted and 19 completely impacted teeth, includin …
A histopathological and analytical study of a permanent tooth from a patient with cleidocranial dysostosis (CCD) was performed …