✦ LIBER ✦

Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type

✍ Scribed by El�ioglu, Nursel; Hall, Christine M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 38 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980319)76:3<245::aid-ajmg8>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Spondylometaphyseal dysplasia-sedaghatia

Spondylometaphyseal dysplasia-sedaghatian type

✍ El�ioglu, Nursel; Hall, Christine M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 1 views

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

Craniometaphyseal dysplasia in six gener

Craniometaphyseal dysplasia in six generations of a German kindred

✍ Tinschert, Sigrid; Braun, Hans-Steffen 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 1 views

Craniometaphyseal dysplasia (CMD) was found in 6 generations of a large German kindred; 24 affected individuals were identified. The clinical diagnosis was confirmed by further examinations in 15 individuals, including 2 exhumed skeletons. Five deceased individuals were considered to be undoubtedly

Distinct, autosomal recessive form of sp

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

✍ Ahmad, Mahmud; Ul Haque, Muhammad Faiyaz; Ahmad, Wasim; Abbas, Hasan; Haque, Say 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance,

Autosomal recessive nonsyndromic hearing

Autosomal recessive nonsyndromic hearing loss

✍ Sundstrom, Rachel A.; van Laer, Lut; Van Camp, Guy; Smith, Richard J.H. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual severe to profound or profound hearing impairment. Of the 25 reported loci, most have been identified using single consanguineous families. Six of these genes have been cloned an

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