Volume 11; Issue 1

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Clinical Dysmorphology
Volume 11; Issue 1

Clinical Dysmorphology

Volume 11; Issue 1

1

Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome

Yldrm, Serkan, Akan, Mithat, Deviren, Ayhan, Ak??z, Tayfun

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 221 KB

english, 2002

2

Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome

Shanske, Alan L., Gurland, Judith E., Mbekeani, Joyce N., Bello, Jacqueline A., Campbell, Deborah, Kleinhaus, Sylvain

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 163 KB

english, 2002

3

Mild Noonan phenotype associated with coloboma of the iris and choroid

Gravholt, Claus H??jbjerg, Warburg, Mette, Friedrich, Ursula

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

4

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

Toriello, Helga V., Lemire, Edmond G.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

5

Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness

Umpaichitra, Vatcharapan, Wallerstein, Robert, Castells, Salvador

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 255 KB

english, 2002

6

Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis

Bates, A.W., Hall, C.M., Morgan, H., Rosser, E.M., Scheimberg, I.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

7

Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?

ten Donkelaar, H.J., Hamel, B.C.J., Hartman, E., van Lier, J.A.C., Wesseling, P.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 264 KB

english, 2002

8

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations

Al-Gazali, L.I., Bakir, M., Hamud, O.A., Gerami, S.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 348 KB

english, 2002

9

The difficulty of height prediction in Weaver syndrome

Voorhoeve, P.G., van Gils, J.F., Jansen, M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 161 KB

english, 2002

10

Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement

Gabrielli, Orazio, Bruni, Stefano, Bruschi, Barbara, Carloni, Ines, Coppa, Giovanni Valentino

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 116 KB

english, 2002

11

Shprintzen-Goldberg marfanoid syndrome: A case followed up for 24 years

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 397 KB

english, 2002

12

Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype

Brennan, Paul, Hall, Christine

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 277 KB

english, 2002

13

Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation

Seven, Mehmet, Karaman, Birsen, Hacihanefioglu, Seniha, Deviren, Ayhan, Yuksel, Adnan, Basaran, Seher

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 179 KB

english, 2002

14

Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations ??? another case of Meacham syndrome

Killeen, Orla G., Kelehan, Peter, Reardon, William

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 288 KB

english, 2002

15

X-linked inheritance of Dandy-Walker variant

Wakeling, Emma L., Jolly, Matthew, Fisk, Nicholas M., Gannon, Caroline, Holder, Susan E.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

16

Monosomy 1p36 ??? a recently delineated, clinically recognizable syndrome

Zenker, M., Rittinger, O., Grosse, K.-P., Speicher, M.R., Kraus, J., Rauch, A., Trautmann, U.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 297 KB

english, 2002

17

Morbid obesity and hyperphagia in the WAGR syndrome

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

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