𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Keppen–Lubinsky syndrome: Expanding the phenotype

✍ Scribed by Lina Basel-Vanagaite; Lisa Shaffer; David Chitayat

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
98 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genitopatellar syndrome: Expanding the p
Genitopatellar syndrome: Expanding the phenotype
✍ Lifchez, Caroline A. ;Rhead, William J. ;Leuthner, Steven R. ;Lubinsky, Mark S. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views
Blepharocheilodontic (BCD) syndrome: Exp
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
✍ Lopes, Vera L�cia Gil da Silva ;Guion-Almeida, Maria Leine ;Rodini, Elaine Sbrog 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

## Abstract We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observ

Expanded phenotype of cranioectodermal d
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
✍ Amar, M. J. A.; Sutphen, R.; Kousseff, B. G. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 392 KB 👁 2 views

Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus