𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia

✍ Scribed by Cetta, Giuseppe; Rossi, Antonio; Burgio, Giuseppe R.; Beluffi, Giampiero


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
6 KB
Volume
73
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971231)73:4<493::aid-ajmg24>3.0.co;2-l

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Pseudodiastrophic dysplasia type Burgio
✍ Fischetto, R.; Causio, F.; Corso, G.; Lillo, V.; Natale, B.; Papadia, F. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 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

Craniofacial structure in diastrophic dy
✍ Karlstedt, Eva; Kaitila, Ilkka; Pirinen, Sinikka πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 94 KB πŸ‘ 2 views

Diastrophic dysplasia (DTD) is a well characterized, recessively inherited osteochondrodysplasia. Forty-eight patients with DTD were studied for craniofacial characteristics. Of these patients, 58% had cleft palate. A cephalometric analysis based on lateral cephalograms was performed. We observed a

Diastrophic dysplasia diagnosed in a cas
✍ Lapunzina, Pablo; Arberas, Claudia; Fernandez, MarοΏ½a del Carmen; Tello, Ana MarοΏ½ πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

Diastrophic dysplasia (DTD) is an autosomal recessive skeletal disorder characterized by disproportionate short stature, talipes equinovarus, flexion contracture of the knees, ''hitchhiker thumbs,'' increased incidence of dislocation at major joints, ear abnormalities, cleft palate, and progressive

Gracile bone dysplasia
✍ Thomas, Janet A.; Rimoin, David L.; Lachman, Ralph S.; Wilcox, William R. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 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

Craniometaphyseal dysplasia in six gener
✍ Tinschert, Sigrid; Braun, Hans-Steffen πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 65 KB πŸ‘ 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

Autoimmune enteropathy in Schimke immuno
✍ Kaitila, I.; Savilahti, E.; οΏ½rmοΏ½lοΏ½, T. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 31 KB πŸ‘ 1 views

The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in