Volume 16; Issue 1

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Clinical Dysmorphology
Volume 16; Issue 1

Clinical Dysmorphology

Volume 16; Issue 1

1

WAGR syndrome: is the ???R??? always justified?

Termine, Cristiano, Parigi, Gian, Rossi, Maura, Romano, Piero, Balottin, Umberto

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

2

Chromosome Y polysomy: a non-mosaic 49,XYYYY case

Paoloni-Giacobino, Ariane, Lespinasse, James

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

3

Tibial agenesis???ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations

Lee, Meng-Luen, Chen, Ming

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 212 KB

english, 2007

4

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Nezarati, Marjan M., Aftimos, Salim

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

5

Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Garc??a-Ortiz, Jos?? El??as, Garc??a-Cruz, Diana, D??valos, Ingrid Patricia, Nazar??, Zamira, Garc??a-Cruz, Mar??a Olga, Casta??eda, V??ctor, Guti??rrez-Mendivil, Leonel, S??nchez-Corona, Jose

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 283 KB

english, 2007

6

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Fisher, Richard B., Pairaudeau, Peter W., Innes, James R., Bartlett, Richard J.V., Crow, Yanick J.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

7

Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome

Phadke, Shubha R., Dalal, Ashwin

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 137 KB

english, 2007

8

Labyrinthine malformation in the 22q11.2 deletion syndrome

Hopsu, Erkki, Markkola, Antti, Pitk??ranta, Anne

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

9

A family with autosomal dominant oculo-auriculo-vertebral spectrum

Tasse, Christiane, Majewski, Frank, B??hringer, Stefan, Fischer, Sven, L??decke, Hermann-Josef, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

10

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez???L??pez-Hern??ndez syndrome

Bowdin, Sarah, Phelan, Ethna, Watson, Rosemarie, McCreery, Kathryn M., Reardon, William

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 274 KB

english, 2007

11

Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations

Mikati, Mohamad A.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 35 KB

english, 2007

12

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother??s first affected daughter

Smigiel, Robert, Laczmanska, Izabela, Sasiadek, Maria

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

13

Phenotypic overlap in Melnick???Needles, serpentine fibula???polycystic kidney and Hajdu???Cheney syndromes: a clinical and molecular study in three patients

Albano, Lilian M.J., Bertola, D??bora R., Barba, M??rio F., Valente, Marcelo, Robertson, Stephen P., Kim, Chong A.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 454 KB

english, 2007

14

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Martin, Madelena M., Lockspieler, Tai, Slavotinek, Anne M.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 128 KB

english, 2007

15

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption

Prothero, Joanna, Nicholl, Richard, Wilson, Judith, Wakeling, Emma L.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 84 KB

english, 2007

16

Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?

Leask, Kathryn M., Kerr, Bronwyn, Ladusans, Ed

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

17

Airway anomalies in the oculoauriculofrontonasal syndrome

Rom??n Corona-Rivera, Jorge, L??pez-Marure, Eloy, G??mez-Ru??z, Larissa, Carmen Abreu-Fern??ndez, Mar??a del, Quezada-L??pez, Claudia, P??rez-Molina, Jes??s, Santiba??ez-Escobar, Laura Patricia

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 205 KB

english, 2007