✦ LIBER ✦

Thanatophoric dysplasia type I with syndactyly

✍ Scribed by Brodie, Steven G.; Kitoh, Hiroshi; Lipson, Mark; Sifry-Platt, Mara; Wilcox, William R.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 11 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981116)80:3<260::aid-ajmg15>3.0.co;2-s

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2. We conclude that mutations in FGFR3 may also be associated with developmental abnormalities due to interference with programmed cell death.

📜 SIMILAR VOLUMES

Spondylometaphyseal dysplasia-sedaghatia

Spondylometaphyseal dysplasia-sedaghatian type

✍ El�ioglu, Nursel; Hall, Christine M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly.

Spondylometaphyseal dysplasia: Sedaghati

Spondylometaphyseal dysplasia: Sedaghatian type

✍ Koutouby, Ayman; Habibullah, Javed; Moinuddin, Faquih Arif 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

We report a case of spondylometaphyseal dysplasia in an infant who was born to nonconsanguineous Yemeni parents. Radiological findings were consistent with lethal metaphyseal chondrodysplasia (Sedaghatian type). Although all previously reported cases died within 4 days of life, our patient survived

Craniometadiaphyseal dysplasia, wormian

Craniometadiaphyseal dysplasia, wormian bone type

✍ Santolaya, Jose M.; Hall, Christine M.; Garc�a-Mi�aur, Sixto; Delgado, Alfonso 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones

Molecular, radiologic, and histopatholog

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

✍ Wilcox, William R.; Tavormina, Patricia L.; Krakow, Deborah; Kitoh, Hiroshi; Lac 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 1 views

Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia (TD). We examined the clinical, radiographic, and histologic findings in 91 cases from the International Skeletal Dysplasia Registry and correlated them with the specific

Pseudodiastrophic dysplasia type Burgio

Pseudodiastrophic dysplasia type Burgio in a newborn

✍ Fischetto, R.; Causio, F.; Corso, G.; Lillo, V.; Natale, B.; Papadia, F. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 1 views

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescribed major malformati

Temporal aspects in craniometaphyseal dy

Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type

✍ El�ioglu, Nursel; Hall, Christine M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 1 views

We present the clinical and radiographic findings in a patient with the autosomal recessive form of craniometaphyseal dysplasia (CMD). The changes from infancy to the age of 17 years are illustrated and discussed. Am.