We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2%, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolut
โฆ LIBER โฆ
Congenital myopathy with myasthenic features and congenital cataract in two siblings
โ Scribed by Y. Nishida; T. Kobayashi; M. Machi; T. Yamada; T. Kitaguchi; K. Oda; I. Goto
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 538 KB
- Volume
- 236
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Fragile X syndrome in two siblings with
โ
Giampietro, Philip F.; Haas, Bruce R.; Lipper, Evelyn; Gutman, Alyson; Zellers,
๐
Article
๐
1996
๐
John Wiley and Sons
๐
English
โ 17 KB
Hereditary mitochondrial hypertrophic ca
โ
Ekeren, Gerrit J. ;Stadhouders, Ad M. ;Egberink, Gerdi J. M. ;Sengers, Rob C. A.
๐
Article
๐
1987
๐
Springer-Verlag
๐
English
โ 772 KB
Juvenile rheumatoid arthritis in two sib
โ
K. Fujita; K. Kobayshi; F. Okino
๐
Article
๐
1988
๐
Springer
๐
English
โ 356 KB
A sister and brother with congenital leucocyte adhesion deficiency developed systemic-onset juvenile rheumatoid arthritis (JRA). They showed polyarthritis, spiking fever, reddish eruptions, anaemia, hepatosplenomegaly, increased erythrocyte sedimentation rate, and positive rheumatoid factor. Occurre
Multiple congenital anomalies syndrome w
โ
Ionasescu, Victor ;Patil, Shivanand ;Hart, Michel ;Rhead, William ;Smith, Wilbur
๐
Article
๐
1987
๐
John Wiley and Sons
๐
English
โ 472 KB
๐ 2 views
Single fiber EMG in a congenital myasthe
โ
Dr. Menachem Sadeh; Ilan Blatt; Yochanan Goldhammer
๐
Article
๐
1993
๐
John Wiley and Sons
๐
English
โ 324 KB
Beneficial effect of albuterol in congen
โ
Menachem Sadeh; Xin-Ming Shen; Andrew G. Engel
๐
Article
๐
2011
๐
John Wiley and Sons
๐
English
โ 617 KB