Volume 14; Issue 2

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Clinical Dysmorphology
Volume 14; Issue 2

Clinical Dysmorphology

Volume 14; Issue 2

1

Further delineation of the 22q13 deletion syndrome

Lindquist, S.G., Kirchhoff, M., Lundsteen, C., Pedersen, W., Erichsen, G., Kristensen, K., Lillquist, K., Smedegaard, H.H., Skov, L., Tommerup, N., Br??ndum-Nielsen, K.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 163 KB

english, 2005

2

Case report: Y;6 translocation with deletion of 6p

Klein, Ophir D., Backstrand, Kendall, Cotter, Philip D., Marco, Elysa, Sherr, Elliott, Slavotinek, Anne

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 114 KB

english, 2005

3

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene

van den Ende, J.J., Mattelaer, P., Declau, F., Vanhoenacker, F., Claes, J., Van Hul, E., Baten, E.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 573 KB

english, 2005

4

3C syndrome with cryptorchidism and posterior embryotoxon

Papadopoulou, Eleftheria, Sifakis, Stavros, Rogalidou, Maria, Makrigiannakis, Antonios, Giannakopoulou, Christina, Petersen, Michael B.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

5

Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile

Lanzi, Giovanni, Termine, Cristiano, Capsoni, Chiara, Zoppello, Marina, Sacchi, Severino A., Danesino, Cesare

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 143 KB

english, 2005

6

Autosomal dominant inheritance of Williams???Beuren syndrome in a father and son with haploinsufficiency for FKBP6

Metcalfe, Kay, Simeonov, Emil, Beckett, William, Donnai, Dian, Tassabehji, May

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

7

Neonatal Marfan syndrome: clinical report and review of the literature

Heide, Henriette ter, Schrander- Stumpel, Constance T.R.M., Pals, Gerard, Delhaas, Tammo

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

8

A new case of Okamoto syndrome

Wallerstein, Robert, Shih, Ling-yu, Fong, Mei-Heung, Zheng, Sharon, Poon, Eric

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

9

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

Thiel, Christian T., Rosanowski, Frank, Kohlhase, J??rgen, Reis, Andr??, Rauch, Anita

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 198 KB

english, 2005

10

Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds)

Esra ??nal, E., T??rkyilmaz, Canan, Atalay, Yldz, Okumu??, Nurullah

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 162 KB

english, 2005

11

Severe feeding difficulties in 3C syndrome

Iyer, Prasad, Smith, Rupert

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

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