✦ LIBER ✦

Craniometadiaphyseal dysplasia, wormian bone type

✍ Scribed by Santolaya, Jose M.; Hall, Christine M.; Garc�a-Mi�aur, Sixto; Delgado, Alfonso

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 35 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980518)77:3<241::aid-ajmg10>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

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 without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.

📜 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

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

Gracile bone dysplasia

✍ Thomas, Janet A.; Rimoin, David L.; Lachman, Ralph S.; Wilcox, William R. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB

Gracile bones are a frequent abnormality associated with fetal hypokinesia of any cause. With the exception of thin, undermineralized bones, the chondro-osseous structure is usually normal in these cases. We present a lethal skeletal dysplasia comprising minor anomalies, central nervous system abnor

Thanatophoric dysplasia type I with synd

Thanatophoric dysplasia type I with syndactyly

✍ Brodie, Steven G.; Kitoh, Hiroshi; Lipson, Mark; Sifry-Platt, Mara; Wilcox, Will 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB

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

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

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.