Volume 10; Issue 1

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Clinical Dysmorphology
Volume 10; Issue 1

Clinical Dysmorphology

Volume 10; Issue 1

1

A novel syndrome involving primary skeletal growth and retardation in siblings

Hadziselimovic, F., Fliegel, Ch., Miny, P.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 255 KB

english, 2001

2

Ischiospinal dysostosis with rib gaps and nephroblastomatosis

Spranger, J., Self, S., Clarkson, K. B., Pai, G. S.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 368 KB

english, 2001

3

A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome

Becker, K., Splitt, M.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

4

Situs inversus totalis and congenital hypoglossia

Amor, David J., Craig, Jan E.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

5

An Asian girl with a ???milder??? form of the Hydrolethalus syndrome

Shotelersuk, V., Punyavoravud, V., Phudhichareonrat, S., Kukulprasong, A.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 191 KB

english, 2001

6

An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma

Semerci, C. Nur, Bebitoglu, I?? lhan, Ka??ar, Ayper, Yurttag??l, Sinan, Er??akmak, Serdar, Ertoy, Dilek, ??zaltin, Fatih, Balci, Sevim

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 314 KB

english, 2001

7

A case of Acro-renal-mandibular syndrome in an 18 week male fetus

Tobias, E. S., Patrick, W. J. A., MacKenzie, J. R., Whiteford, M. L.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 172 KB

english, 2001

8

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

9

Cortical dysgenesis and 22q11 deletion

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

10

A case with Waardenburg syndrome presenting with two separate translocations ??? one reciprocal and one complex

Dundar, M., Lowther, G., Colgan, J., Ozkul, Y., Candemir, Z., Saatci, C., Kurtoglu, S., Watt, J., Morrison, N.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 112 KB

english, 2001

11

Abnormal testicular histology in Michelin tire syndrome

Cooper, Christopher S., Noh, Paul H., Zderic, Stephen A., Huff, Dale S.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

12

Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases

Amiel, Jeanne, Faivre, Laurence, MarianowskI, R??mi, Bonnet, Damien, Couly, G??rard, Manach, Yves, Le Merrer, Martine, Cormier-Daire, Val??rie, Munnich, Arnold, Lyonnet, Stanislas

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 196 KB

english, 2001

13

Micromelic dwarfism ??? humerus, femur and tibia type

Al-Gazali, L. I., Bakir, M., Hamid, Z., Nath, D., Haas, D.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 163 KB

english, 2001

14

New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy

Verloes, Alain, Lesenfants, Sylviane

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 135 KB

english, 2001

15

Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

Teebi, Ahmad S., Druker, Harriet A.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

16

Severe terminal transverse limb reduction defects in homozygous Southeast-Asian ??-thalassaemia-1

Chen, Chih-Ping

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 157 KB

english, 2001

17

Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome

Hoffman, Hal M., Bastian, John F., Bird, Lynne M.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 294 KB

english, 2001

18

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

Lammer, Edward J., Scholes, Tricia, Abrams, Liane

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 177 KB

english, 2001

19

Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome?

T??ys??z, Beyhan, Beker, Bahar Dildar, Centel, Tuncay, ??ng??r, Sava??, lter, ??zdemir

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001