Volume 11; Issue 4

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Clinical Dysmorphology
Volume 11; Issue 4

Clinical Dysmorphology

Volume 11; Issue 4

1

A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy

Maclean, K., Ambler, G., Flaherty, M., Kozlowski, K., Ad??s, L.C.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 298 KB

english, 2002

2

Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case

Suri, Mohnish, Garrett, C., Winter, R.M., Hall, C.M., Griffiths, M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

3

Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?

Panigrahi, Inusha, Phadke, Shubha R., Agarwal, S.S.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

4

Distal aphalangia, an extra metatarsal, short stature and microcephaly: a second case

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

5

Corrigendum

Journal:

Clinical Dysmorphology

Year:

2002

File:

PDF, 31 KB

2002

6

Dominant inheritance of cleft palate, microstomia and micrognathia ??? possible linkage to the fragile site at 16q22 (FRA16B)

McKenzie, F., Turner, A., Withers, S., Dalzell, P., McGlynn, M., Kirk, E.P.E.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 232 KB

english, 2002

7

VATER ??? tibia aplasia association: report on two patients

Spruijt, Liesbeth, Devriendt, Koen, Offermans, Jos, Bulstra, Sjoerd, Schrander-Stumpel, Connie

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 305 KB

english, 2002

8

Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?

Giltay, J.C., Wittebol-Post, D., van Bokhoven, H., Kastrop, P.M.M., Lock, M.T.W.T.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

9

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset

de Ravel, T.J.L., De Smet, L., Fryns, J.-P.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 293 KB

english, 2002

10

A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS

Fryssira, Helen, Papathanassiou, Miltiadis, Barbounaki, Joanna, Orfanou, Irene, Lagona, Evangelia, Paikos, Peter

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 256 KB

english, 2002

11

A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype

Kajantie, E., ??mm??l??, P., Salonen, R.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 178 KB

english, 2002

12

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome

Silengo, M., Barberis, L., Ferrero, G.B., Sorasio, L., Valenzise, M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002

13

Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome

Chan, Pei-Chun, Chiu, Hsien-Ching, Hwu, Wuh-Liang

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 97 KB

english, 2002

14

A Schinzel-Giedion-like syndrome ??? a milder version or a separate condition?

Joss, Shelagh, Dean, John C.S.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 230 KB

english, 2002

15

Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome

Figuera, L.E., Ram??rez-Due??as, M.L., D??valos, I.P., Cant??, J.M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 349 KB

english, 2002

16

Food aversion and facial dysmorphism ??? a newly described syndrome?

KENG, W.T., COLE, T., PILZ, D., PORTEOUS, M.E.M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 229 KB

english, 2002

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