✦ LIBER ✦

Sex-linked chondrodysplasia punctata?

✍ Scribed by K. Happle; H.-H. Matthiass; E. Macher

Book ID: 119838554
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 320 KB
Volume: 11
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1977.tb01281.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dominant sex-linked inherited chondrodys

Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

✍ H. Manzke; E. Christophers; H.-R. Wiedemann 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 844 KB

Heterozygous expression of X-linked chon

Heterozygous expression of X-linked chondrodysplasia punctata

✍ Doris Wöhrle; Gotthold Barbi; Wolfgang Schulz; Peter Steinbach 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 642 KB

Two females showing partial expression of Xlinked chondrodysplasia punctata were identified in a family. Bone dysplasia was caused by an aberrant X chromosome that had an inverse duplication of the segment Xp21.2-Xp22.2 and a deletion of Xp22.3-Xpter. To characterise the aberrant X chromosome, dosag

Chondrodysplasia punctata

✍ Poul Erik Andersen; Per Justesen 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 940 KB

Chondrodysplasia punctata is a rare familial disorder characterized by punctate calcifications in the epiphyseal regions. The radiological picture is typical, but early diagnosis is important as the characteristic calcifications disappear within the first year of life. Three subtypes with different

Chondrodysplasia punctata

✍ Walter Swoboda 📂 Article 📅 1977 🏛 Elsevier Science 🌐 English ⚖ 93 KB

X-linked dominant chondrodysplasia punct

X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

✍ Wilson, Callum J.; Aftimos, Salim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review t

Chondrodysplasia punctata: Another possi

Chondrodysplasia punctata: Another possible X-linked recessive case

✍ Bennett, C. P. ;Berry, A. Caroline ;Maxwell, D. J. ;Seller, Mary J. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 473 KB 👁 1 views

## Abstract A 22‐week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of