Volume 12; Issue 1

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Clinical Dysmorphology
Volume 12; Issue 1

Clinical Dysmorphology

Volume 12; Issue 1

1

Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers

Rozendaal, Lieke, Canho, Harry Del, Waterham, Hans R., Hennekam, Raoul C.M.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 230 KB

english, 2003

2

Transposition of external genitalia and associated malformations

Meguid, Nagwa Abdel, Temtamy, Samia A., Mazen, Inas

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 127 KB

english, 2003

3

Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect?

Corona-Rivera, Jorge Rom??n, Corona-Rivera, Enrique, Navarro-Ram??rez, Pedro, Castro-Hern??ndez, J. Francisco, Acosta-Le??n, Jorge, Corona-Rivera, Alfredo

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 152 KB

english, 2003

4

Smith-Magenis syndrome and cyanotic congenital heart disease: a case report

Wong, Janice Tzen-Yuen, Chan, Daisy Kwai-Lin, Wong, Keng-Yean, Tan, Mary, Rudduck, Christina, Tien, Sim-Leng

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

5

Siblings with Bohring-Opitz syndrome

Greenhalgh, K.L., Newbury-Ecob, R.A., Lunt, P.W., Dolling, C.L., Hargreaves, H., Smithson, S.F.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 256 KB

english, 2003

6

Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25???qter and monosomy 18p11.3???pter in a girl with dysmorphic features

Velagaleti, Gopalrao V.N., Jalal, Syed M., Michaelis, Ron C., Rowe, Thomas F., Nichols, Jerilynn R., Lockhart, Lillian H.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 271 KB

english, 2003

7

Three craniosynostotic patients with tracheal sleeve

Okajima, Kazuki, Aoki, Ichiro, Sagehashi, Nobuyuki, Malcolm, Sue, Winter, Robin M.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 41 KB

english, 2003

8

St??ve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

Al-Gazali, L.I., Ravenscroft, A., Feng, A., Shubbar, A., Al-Saggaf, A., Haas, D.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 251 KB

english, 2003

9

Familial Cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review

James, Paul A., Aftimos, Salim

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 323 KB

english, 2003

10

Fryns ???Anophthalmia-Plus??? syndrome associated with developmental regression

Wiltshire, Esko, Moore, Mark, Casey, Theresa, Smith, Greg, Smith, Scott, Thompson, Elizabeth

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

11

SHORT syndrome

Koenig, Rainer, Brendel, Leticia, Fuchs, Sigrun

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

12

Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler??s syndrome

Pollak, C., Floy, M., Say, B.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

13

Anterior segment dysgenesis and absent lens caused by amniotic bands

Datta, Himadri, Datta, Sumana

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 201 KB

english, 2003

14

Familial cryptic translocation with deletion 4q33???4qter and duplication 7q34???7qter in brothers with mental retardation, macrocephaly and iris coloboma

Moog, Ute, Engelen, John J.M., van Schrojenstein Lantman-de Valk, Henny M.J., Driessen, Sandra D., Fryns, Jean-Pierre

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 206 KB

english, 2003

15

Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings

Vakili, Rahim, Mazlouman, Shahriar Jalali

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 563 KB

english, 2003