Volume 15; Issue 4

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Clinical Dysmorphology
Volume 15; Issue 4

Clinical Dysmorphology

Volume 15; Issue 4

1

Malpuech syndrome: facial features in the absence of clefting

Finn, Susan M., Lynch, Sally A.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 88 KB

english, 2006

2

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

Maegawa, Gustavo H.B., Chitayat, David, Blaser, Susan, Whyte, Hilary, Thomas, Micki, Kim, Peter, Kim, Jae, Taylor, Glen, McNamara, Patrick J.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 403 KB

english, 2006

3

FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report

Hackett, Anna, Rowe, Lindsay

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 289 KB

english, 2006

4

Handless, footless fetus

Phadke, Shubha R., Girisha, K.M., Dalal, Ashwin

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

5

Concordant familial segregation of atrial septal defect and Axenfeld???Rieger anomaly in father and son

Calcagni, Giulio, Digilio, Maria Cristina, Capolino, Rossella, Dallapiccola, Bruno, Marino, Bruno

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 69 KB

english, 2006

6

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

Sellick, Gabrielle S., Hoornaert, Kristein P., Mortier, Geert R., King, Catherine, Dolling, Claire L., Newbury-Ecob, Ruth A., Gargan, Martin, Hall, Christine M., Houlston, Richard S., Smithson, Sarah

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

7

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

Lawson-Yuen, Amy, Berend, Sue Ann, Soul, Janet S., Irons, Mira

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

8

Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties

Armstrong, Ruth, Ellis, Ian, Kightley, Catherine, Sethi, Vijay Dinanadh, McCarthy, Emma, Maye, Una, White, Gillian

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 103 KB

english, 2006

9

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

Mercer, Catherine, Gilbert, Rodney, Loughlin, Sam, Foulds, Nicola

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

10

Omphalocele in an infant with Cornelia de Lange syndrome

Lemire, Edmond G.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 40 KB

english, 2006

11

A female with hemihypertrophy and chylous ascites ??? Klippel???Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma

Gupta, Neerja, Kabra, Madhulika, Ramesh, Konanki, Garg, Garima, Kaur, Dilpreet, Gupta, Arun, Bal, Chandra Shekhar

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

12

Oesophageal atresia with a terminal deletion of chromosome 2q37.1

Masumoto, Kouji, Suita, Sachiyo, Taguchi, Tomoaki

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 135 KB

english, 2006

13

Symmetrical absence of hands and feet with bilateral radius agenesia: case report of a new entity?

Fabiano Machado Rosa, Rafael, Ricardo Gazzola Zen, Paulo, Machado Neto, Lauro, Graziadio, Carla, Adriano Paskulin, Giorgio

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 127 KB

english, 2006

14

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly???lymphoedema

Mazen, Inas, Zaki, Maha S.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

15

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression

Bedeschi, Maria Francesca, Escande, Fabienne, Bellini, Melissa, Natacci, Federica, Cavallari, Ugo, Lalatta, Faustina

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 147 KB

english, 2006

16

Diencephalic cachexia of infancy: Russell??s syndrome

Murphy, Anne-Marie, Drumm, Brendan, Brenner, Clare, Lynch, Sally Ann

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

17

Neuhauser syndrome and Peters?? anomaly

Yarar, Coskun, Yakut, Ayten, Yildirim, Nilgun, Yildiz, Bilal, Basmak, Hikmet

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 102 KB

english, 2006

18

Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q

Su, Pen-Hua, Chen, Jia-Yuh, Chen, Suh-Jen, Yang, Ming-Shiang, Liu, Yuh-Ling

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006