We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome,
β¦ LIBER β¦
Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: A new syndrome
β Scribed by Mikati, Mohamad A. ;Najjar, Samir S. ;Sahli, Itaf F. ;Mansour, Sylvie ;Der Kaloustian, Vazken M. ;Melhem, Rafik E. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 674 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A syndrome of microcephaly, eye anomalie
β
Bavinck, Jan N. Bouwes ;Weaver, David D. ;Ellis, Forrest D. ;Ward, Richard E. ;O
π
Article
π
1987
π
John Wiley and Sons
π
English
β 406 KB
π 2 views
Syndrome of short stature, mental defici
β
Dumi?, Miroslav ;Cvitanovic, Marijana ;Ille, Jasenka ;Potocki, Kristina
π
Article
π
2000
π
John Wiley and Sons
π
English
β 309 KB
π 2 views
Deletion of the CUL4B gene in a boy with
β
Bertrand Isidor; Olivier Pichon; Sabine Baron; Albert David; CΓ©dric Le Caignec
π
Article
π
2009
π
John Wiley and Sons
π
English
β 213 KB
π 2 views
Vertebral and eye anomalies, cutis aplas
β
Prasad, C.; Connolly-Wilson, M.; Rosales, T.O.
π
Article
π
1998
π
John Wiley and Sons
π
English
β 23 KB
π 2 views
We report on a 6-year-old girl with short stature, facial anomalies, cutis aplasia, nasolacrimal duct obstruction, megalocorneae, kyphoscoliosis with multiple segmentation defects of the thoracic vertebrae, and 11 pairs of ribs. These anomalies together may represent a newly recognized syndrome.
Unusual type of brachydactyly associated
β
Richieri-Costa, A. ;Colletto, G. M. D. D. ;Otto, P. A. ;Opitz, John M. ;Reynolds
π
Article
π
1985
π
John Wiley and Sons
π
English
β 350 KB
π 1 views
Mental retardation, distinct facial chan
β
Chudley, Albert E. ;Lowry, R. Brian ;Hoar, David I. ;Opitz, John M. ;Reynolds, J
π
Article
π
1988
π
John Wiley and Sons
π
English
β 631 KB