OMIA 002239-9615 : Facial dysmorphia in Canis lupus familiaris
Possibly relevant human trait(s) and/or gene(s) (MIM number): 303600 (trait) Mendelian trait/disorder: yes Mode of inheritance: X-linked recessive Considered a defect: yes Key variant known: no Species-specific name: lethal brachycephalic-like facial dysmorphia Inheritance: Dierks et al. (2017): "Pedigree analysis supported an X-linked recessive mode of inheritance." Clinical features: Dierks et al. (2017): "Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival." Pathology: Dierks et al. (2017): "Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination." Breed: Labrador Retriever.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Vasiliadis, D., Dierks, C., Hoffmann, H., Hellige, M., Hewicker-Trautwein, M., Metzger, J., Distl, O. :|
|Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet 51:122-126, 2020. Pubmed reference: 31691328. DOI: 10.1111/age.12875.|
|2017||Dierks, C., Hoffmann, H., Heinrich, F., Hellige, M., Hewicker-Trautwein, M., Distl, O. :|
|Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J 220:48-50, 2017. Pubmed reference: 28190494. DOI: 10.1016/j.tvjl.2017.01.004.|
- Created by Frank Nicholas on 31 Jan 2020
- Changed by Frank Nicholas on 31 Jan 2020
- Changed by Imke Tammen2 on 21 May 2022