Volume 21; Issue 4

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Clinical Dysmorphology
Volume 21; Issue 4

Clinical Dysmorphology

Volume 21; Issue 4

1

MRI findings of intracranial malformations in a case with Fraser syndrome

Yesilkaya, Yakup, Hizal, Mustafa, Karli Oguz, Kader, Alanay, Yasemin

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 255 KB

english, 2012

2

Incontinentia pigmenti

Venugopalan, Poothirikovil, Pang, Ki

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

3

VATER/VACTERL association

Bartels, Enrika, Schulz, Anna C., Mora, Nicole W., Pineda-Alvarez, Daniel E., Wijers, Charlotte H. W., Marcelis, Carlo M., Stressig, Rüdiger, Ritgen, Jochen, Schmiedeke, Eberhard, Mattheisen, Manuel,

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 274 KB

english, 2012

4

Interstitial microduplication 12q13.2–q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias

Wilson, Brian T., Hellens, Stephen W., Breese, Gareth J., Zwolinski, Simon A., Wright, Michael J.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

5

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy

Harrison, Victoria, Hurst, Jane, Lloyd-Jani, Anjali, Lester, Tracy, Lever, Margaret, Man, Somai, O’Rourke, Anthony, Robinson, David, Tabiner, Melody, Williams, Rosy, Kini, Usha

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 298 KB

english, 2012

6

Omphalocele in a patient with Noonan syndrome

Longoni, Laura, D’Apolito, Valeria, Cianci, Paola, Selicorni, Angelo

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

7

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

Maciejewski, Emilie, Vigneron, Jacqueline, Lambert, Laetitia, Bonnet, Céline, Hascoët, Jean-Michel

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

8

Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use

Marchese, Joseph W., Mullen, Matthew G., Doherty, John H.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012

9

A case of multiple congenital anomalies including unusual ear nodules and finger contractures

Davis, Morgan E., Stevens, Abby K., Weaver, David D.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 297 KB

english, 2012

10

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

Croonen, Ellen A., Yntema, Helger G., van Minkelen, Rick, van den Ouweland, Ans M.W., van der Burgt, Ineke

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 194 KB

english, 2012

11

A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation

Tüysüz, Beyhan, van Bon, Bregje W.M., Alp, Zeynep, Güzel, Zeki, Veltman, Joris A., de Vries, Bert B.A.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 307 KB

english, 2012

12

Holoprosencephaly–polydactyly/pseudotrisomy 13

Bous, Sophia M., Solomon, Benjamin D., Graul-Neumann, Luitgard, Neitzel, Heidemarie, Hardisty, Emily E., Muenke, Maximilian

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

13

A new intellectual disability syndrome with digital anomalies

Dias, Patrícia, Medeira, Ana, Cordeiro, Isabel

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 288 KB

english, 2012

14

Another case of genitopatellar syndrome

Sankararaman, Senthilkumar, Kurepa, Dalibor, Velayuthan, Sujithra, Kakkilaya, Venkatakrishna, Gates, Thomas, Ursin, Susonne, Chen, Harold

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 263 KB

english, 2012