Volume 14; Issue 3

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Clinical Dysmorphology
Volume 14; Issue 3

Clinical Dysmorphology

Volume 14; Issue 3

1

A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism

Garcia-Heras, Jaime, Kilani, Ramzi A., Martin, Rick A., Lamp, Stephen

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 154 KB

english, 2005

2

Trigonocephaly and Wilson??s disease in two siblings

Cogulu, Ozgur, Onay, Huseyin, Ozgenc, Funda, Karaca, Emin, Gunduz, Cumhur, Tzetis, Maria, Cankaya, Tufan, Kanavakis, Emmanuel, Ozkinay, Ferda

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

3

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark???Baraitser syndrome

Tabolacci, Elisabetta, Zollino, Marcella, Lecce, Rosetta, Sangiorgi, Eugenio, Gurrieri, Fiorella, Leuzzi, Vincenzo, Opitz, John M., Neri, Giovanni

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 345 KB

english, 2005

4

Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures ??? a new syndrome?

Roper, Emma C., Hobson, Emma E., Sprigg, Alan, Dobbie, Angus, Parker, Michael J.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 216 KB

english, 2005

5

Scalp skin lesion in Turner syndrome: more than lymphoedema?

Debeer, A., Steenkiste, E., Devriendt, K., Morren, M.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

6

Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome ??? case report and review of the literature

Shaw-Smith, Charles, Willatt, Lionel, Thalange, Nandu

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

7

Caudothalamic groove cysts in Zellweger syndrome

??nay, B??lent, Kendirli, Tanl, Atac, Kaan, G??l, Davut, Akn, Rdvan, G??kcay, Erdal

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 104 KB

english, 2005

8

Kohlschutter syndrome in siblings

Donnai, D., Tomlin, P.I., Winter, R.M.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 216 KB

english, 2005

9

Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change

McCann, Emma, Fryer, Alan E., Kokai, George

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 200 KB

english, 2005

10

Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features

Winship, Ingrid, Aftimos, Salim

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 114 KB

english, 2005

11

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

Vasudevan, Pradeep C., Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L., Quarrell, Oliver W. J.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

12

Clark???Baraitser syndrome: report of a new case and review of the literature

Mendicino, Angela, Sabbadini, Guglielmo, Pergola, Mariano S.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

13

Tetrasomy 9q in an infant with cleft palate and multiple anomalies

McPherson, Elizabeth, Neiswanger, Katherine, Surti, Urvashi

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

14

Association of microcephaly and caf??-au-lait spots in a patient with ring chromosome 12 syndrome

Zen, P.R.G., Pinto, L.L.C., Graziadio, C., Pereira, V.B., Paskulin, G.A.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

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