✦ LIBER ✦

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl

✍ Scribed by Nancy Mizue Kokitsu-Nakata; Luís Fernando Benedito Bérgamo Antunes; Maria Leine Guion-Almeida

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 91 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32353

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Terminal osseous dysplasia with pigmenta

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

✍ Anna Baroncini; Pia Castelluccio; Manuela Morleo; Fiorenza Soli; Brunella Franco 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB 👁 2 views

## Abstract Terminal osseous dysplasia with pigmentary defects is an extremely rare condition characterized by the triad of pigmentary anomalies of the skin, skeletal abnormalities of the limbs and recurring digital fibromatosis of childhood, with considerable interfamilial and intrafamilial variab

Terminal osseous dysplasia and pigmentar

Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

✍ Bacino, Carlos A. ;Stockton, David W. ;Sierra, Roberta A. ;Heilstedt, Heidi A. ; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 624 KB

We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched

Terminal osseous dysplasia with pigmenta

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

✍ Nicola Brunetti-Pierri; Ralph Lachman; Kwanghyuk Lee; Suzanne M. Leal; Pasquale 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB 👁 2 views