Bardet-Biedl syndrome with preaxial poly
✍ Manouvier-Hanu, S.; Moerman, A.; Lefevre, J.
📂 Article
📅 1999
🏛 John Wiley and Sons
🌐 English
⚖ 2 KB
👁 2 views
✦ LIBER ✦
Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome
✍ Scribed by Lorda-Sanchez, Isabel; Ayuso, Carmen; Iba�ez, Angeles
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 4 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000103)90:1<80::aid-ajmg14>3.0.co;2-e
No coin nor oath required. For personal study only.
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Midline field defects and Hirschsprung d
✍ Say, Burhan; Smith, Donna P.
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Recently we saw an infant who had midline defects and Hirschsprung disease, which brought to mind the paper by Jespers et al. [1993] on 2 sibs with similar defects. Those children were born to healthy, consanguineous parents, suggesting autosomal recessive inheritance. The authors concluded that the
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🏛 John Wiley and Sons
🌐 English
⚖ 11 KB
The first case of agnathia-holoprosencephaly and situs inversus totalis was reported by Leech et al. [1988]. Subsequent cases were reported by Robinson and Lenke [1989], Meinecke et al. [1990], and Persuette et al. [1990]. A 22-year-old, primigravid woman at 26 weeks of gestation was referred for p
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🏛 New Creations
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📂 Article
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🏛 John Wiley and Sons
🌐 English
⚖ 33 KB
👁 1 views
We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with norm