Volume 21; Issue 3

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Clinical Dysmorphology
Volume 21; Issue 3

Clinical Dysmorphology

Volume 21; Issue 3

1

Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis

Rafati, Maryam, Seyyedaboutorabi, Elaheh, Brujerdi, Razieh, Moossavi, Shirin, Ghaffari, Saeed Reza

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 413 KB

english, 2012

2

The association of polythelia with segmentation defects of the vertebrae

Akin, Leyla, Akin, Mustafa Ali, Sarici, Dilek, Yikilmaz, Ali, Efendioglu, Bedia, Kurtoglu, Selim

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

3

Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review

Moreno-García, Marta, Sánchez del Pozo, Jaime, Cruz-Rojo, Jaime, Fernández-Martínez, Francisco Javier, Perez-Nanclares Leal, Guiomar

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

4

Abraham Lincolnʼs marfanoid mother

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

5

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH

Palka, Chiara, Antonucci, Ivana, Alfonsi, Melissa, Bedeschi, Maria Francesca, Mohn, Angelika, Lalatta, Faustina, Chiarelli, Francesco, Palka, Giandomenico, Stuppia, Liborio

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 283 KB

english, 2012

6

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

Smigiel, Robert, Barg, Ewa, Gabrysz, Maja, Szpich, Elzbieta, Sasiadek, Marek, Sasiadek, Maria

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

7

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft

Low, Karen J., Nwbury-Ecob, Ruth A.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

8

Evidence for SHH as a candidate gene for encephalocele

Bear, Kelly A., Solomon, Benjamin D., Roessler, Erich, Alvarez, Daniel E. Pineda, Kubendran, Shobana, O’Hara, Margaret, Muenke, Maximilian

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 261 KB

english, 2012

9

A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency

McGill, Jennifer S., Evans, Margaret, Kirk, Jean M., Lam, Wayne, Munro, Michael, Becher, Julie-Clare

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

10

Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis

Assir, Muhammad Zaman Khan, Waseem, Tariq

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 342 KB

english, 2012

11

Diaphragmatic hernia

Searle, Claire, Bala, Pronab, Dobbie, Angus

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 168 KB

english, 2012

12

Brachytelephalangic chondrodysplasia punctata

Gupta, Neerja, Ghosh, Manju, Shukla, Rashmi, Das, Ganesh Prasad, Kabra, Madhulika

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 293 KB

english, 2012

13

Unusual neuroradiological features in Schinzel–Giedion syndrome

Lestner, Jodi Marianne, Chong, Wui K., Offiiah, Amaka, Kefas, Jonathan, Vandersteen, Anthony M.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 234 KB

english, 2012

14

A familial case of Cantu craniofaciofronto digital syndrome

Garcia-Gonzalez, Claudia Lorena, Garcia-Cruz, Diana, Garcia-Cruz, María Olga, Castañeda-Cisneros, Gema, Garcia-Ortiz, Jose Elias, Orozco-Gutiérrez, Mario Humberto, Sanchez-Corona, Jose

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 362 KB

english, 2012

15

One in 10 million

Gardham, Alice, Forsythe, Elizabeth, Goulden, Nick

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

16

Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant

Köstü, Murat, Tuncer, Oğuz, Ceylaner, Serdar, Çaksen, Hüseyin

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 167 KB

english, 2012

17

Sirenomelia

Moosa, Shahida, Lambie, Lindsay Ann, Krause, Amanda

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 496 KB

english, 2012

18

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly

Fuchs, Gabriela E., Suri, Mohnish, Dux, Anthony, Craft, Emily V., Vasudevan, Pradeep C., Tanteles, George A.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 366 KB

english, 2012

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