| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

thanatophoric dysplasia

MIM.187600

thanatophoric dwarfism

 

Autosomal dominant osteochondrodysplasia associating short limbs, narrow thorax and normal trunk length. .

Synopsis

-  systemic anomalies

-  craniofacial anomalies

-  skeletal anomalies

-  cerebral anomalies

Variants

-  thanatophoric dysplasia type 1 (TD1) (MIM.187600)
-  thanatophoric dysplasia type 2 (TD2) (thanatophoric dysplasia with cloverleaf skull) (MIM.187601)

Differential diagnosis

-  achondroplasia
-  PLSDs (platyspondylic lethal short-limbed dysplasias)

-  SADDAN syndrome (severe achondroplasia with developmental delay and acanthosis nigricans) (FGFR3 mutations)

Etiology

-  Locus 4p16.3: germline mutations in the FGFR3 gene



Thanatophoric dysplasia (20 weeks)

Thanatophoric dysplasia (20 weeks)

Thanatophoric dwarfism (20 weeks)

Thanatophoric dysplasia (20 weeks)

Thanatophoric dysplasia

Thanatophoric dysplasia

Thanatophoric dysplasia

Thanatophoric dysplasia

Thanatophoric dysplasia

Thanatophoric dysplasia

Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com