Works matching DE "ACROCEPHALOSYNDACTYLIA type II"

Results: 12

Complex craniosynostosis in the context of Carpenter's syndrome.
Published in:
2022
By:
- Bouaré, Fah;
- Noureldine, Mohammad Hassan A.;
- Hajhouji, Farouk;
- Ghannane, Houssine;
- Jallo, George I.;
- Ait Benali, Said
Publication type:
Case Study
Generalized hyperpigmentation of skin: A case of Carpenter syndrome.
Published in:
2020
By:
- Sivayogana, R.;
- Suresh, D.
Publication type:
Case Study
OP32.06: Prenatal diagnosis of Carpenter syndrome at 16 weeks: role of 3D ultrasound.
Published in:
Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 149, doi. 10.1002/uog.9559
By:
- Begam, M.;
- Bekdache, G. N.;
- Al Gazali, L.;
- Mirghani, H.
Publication type:
Article
P27.08: Antenatal ultrasound diagnosis of a carpenter syndrome-New case ceport.
Published in:
Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 409, doi. 10.1002/uog.5938
By:
- Albu, D. F.;
- Albu, C. C.;
- Severin, E. M.;
- Purcarea, R.;
- Dumitrescu, M.
Publication type:
Article
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Published in:
2011
By:
- Hurst, Jane A.;
- Jenkins, Dagan;
- Vasudevan, Pradeep C.;
- Kirchhoff, Maria;
- Skovby, Flemming;
- Rieubland, Claudine;
- Gallati, Sabina;
- Rittinger, Olaf;
- Kroisel, Peter M.;
- Johnson, David;
- Biesecker, Leslie G.;
- Wilkie, Andrew OM
Publication type:
Case Study
Genetics Corner: A Consultation for Familial Polysyndactyly.
Published in:
Neonatology Today, 2024, v. 19, n. 6, p. 171
By:
- Ramanathan, Subhadra;
- Clark, Robin D.
Publication type:
Article
Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review.
Published in:
Children, 2024, v. 11, n. 6, p. 748, doi. 10.3390/children11060748
By:
- Papadopoulou, Christianna Iris;
- Sifakakis, Iosif;
- Tournis, Symeon
Publication type:
Article
Rab23 and developmental disorders.
Published in:
Reviews in the Neurosciences, 2018, v. 29, n. 8, p. 849, doi. 10.1515/revneuro-2017-0110
By:
- Hor, Catherine H.H.;
- Tang, Bor Luen;
- Goh, Eyleen L.K.
Publication type:
Article
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.
Published in:
2016
By:
- Rubio, Eva;
- Blask, Anna;
- Bulas, Dorothy;
- Rubio, Eva I;
- Bulas, Dorothy I
Publication type:
journal article
Sex differences in the neurodevelopment of school-age children with and without single-suture craniosynostosis.
Published in:
Child's Nervous System, 2015, v. 31, n. 7, p. 1103, doi. 10.1007/s00381-015-2671-0
By:
- Cradock, Mary;
- Gray, Kristen;
- Kapp-Simon, Kathleen;
- Collett, Brent;
- Buono, Lauren;
- Speltz, Matthew
Publication type:
Article
Autoimmune polyglandular syndrome type 2 in the form of Carpenter syndrome in a 16.5-year-old girl.
Published in:
Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 1, p. 84, doi. 10.5114/polp.2024.135701
By:
- Nowak, Hanna;
- Szwacka, Dominika Maria;
- Niedziela, Marek;
- Stankiewicz, Witold;
- Obara-Moszyńska, Monika
Publication type:
Article
Autoimmune polyglandular syndrome type 2 in an 15-year-old boy.
Published in:
Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 2, p. 151, doi. 10.5114/polp.2022.116075
By:
- Badeński, Andrzej;
- Badeńska, Marta;
- Mierzwa, Magdalena;
- Stojewska, Małgorzata;
- Deja, Grażyna;
- Szczepańska, Maria;
- Ziora, Katarzyna
Publication type:
Article