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