Volume 13; Issue 1

Main
Clinical Dysmorphology
Volume 13; Issue 1

Clinical Dysmorphology

Volume 13; Issue 1

1

Dysmorphic facial features in aspartylglucosaminuria patients and carriers

Arvio, Maria A., Peippo, Maarit M., Arvio, Pekka J., K????ri??inen, Helena A.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 325 KB

english, 2004

2

How wide is the ocular spectrum of Delleman syndrome?

Divizia, Maria Teresa, Priolo, Manuela, Priolo, Enrico, Ottonello, Giancarlo, Baban, Anwar, Rossi, Andrea, Silengo, Margherita Cirillo, Lerone, Margherita

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

3

Unilateral pulmonary atresia with total sacral agenesis and other congenital defects

Bernbeck, Benedikt, Sch??rfeld-F??rstenberg, Katja, Ketteler, Katharina, Kemperdick, Helmuth, Schroten, Horst

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

4

A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices

??ner, Naci, Ba??aran, ??mit Nusret, Yal??in, ??mer, Vatansever, ??lfet, Acuna??, Bet??l

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

5

Vertically transmitted hypoplasia of the abdominal wall musculature

Chan, Yuin-Chew, Bird, Lynne M.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 153 KB

english, 2004

6

A trisomy 2 fetus with severe neural tube defects and other abnormalities

Seller, Mary J., Mazzaschi, Roberto, Ogilvie, Caroline Mackie, Mohammed, Shehla

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

7

Klippel???Feil anomaly associated with thoracic hemivertebrae/butterfly vertebrae and patella hypoplasia

Rahimi-Movaghar, V., Moghtaderi, A., Shahriarian, S., Keshmirian, B.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 181 KB

english, 2004

8

Loose anagen hair syndrome associated with colobomas and dysmorphic features

Hansen, Lars Kj??rsg??rd, Brandrup, Flemming, Clemmensen, Ole

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

9

Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs

Gil da Silva Lopes, Vera L??cia, Guion-Almeida, Maria Leine, Ara??jo Giffoni, Silvyo David

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 205 KB

english, 2004

10

Seckel syndrome associated with atrioventricular canal defect: a case report

Ucar, Birsen, Kilic, Z??beyir, Dinleyici, Ener Cagri, Yakut, Ayten, Dogruel, Nesrin

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 181 KB

english, 2004

11

Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes

Versiani, Beatriz Ribeiro, Gilbert-Barness, Enid, Giuliani, Liane Rosso, Peres, Luiz Cesar, Pina-Neto, Jo??o Monteiro

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 259 KB

english, 2004

12

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations

Day, Ruth, Fryer, Alan

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

13

Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance

Zen, Paulo R.G., Schwartz, Ida V.D., Paskulin, Giorgio A.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 71 KB

english, 2004

14

An infant with pentalogy of Cantrell and limb defects diagnosed prenatally

Uygur, Dilek, K??, Saime, ??ener, Esin, G??n??e, Sevil, Semerci, Nur

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 197 KB

english, 2004

15

Femoral-facial syndrome with hemifacial microsomia and hypoglossia

D??zcan, F??sun, Ergin, Hacer, Per??in, E. Ferda, Tepeli, Emre, Erkula, G??rkan

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

16

VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient

Vatansever, ??lfet, Ba??aran, ??mit Nusret, G??zel, Ahmet, Acuna??, Bet??l, Balci, Sevim

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 151 KB

english, 2004

17

Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case

Priolo, Manuela, Casile, Girolama, Lagan??, Carmelo

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

18

Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect

Cerraho??lu, Kamil, Izci, Yusuf, Apaydn, Ozcan, Torun, Tark

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 174 KB

english, 2004

19

Axial mesodermal dysplasia sequence: autopsy findings

Merchant, Saumil N., Naimi, Timothy S., Khan, Aayesha, Nadol, Joseph B., Holmes, Lewis B.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 637 KB

english, 2004