Pelviscapular dysplasia

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

Multiple skeletal anomalies



合計: 2

                       


（表示件数）
PMID (PMCID)
24039145
 FEMALE Adult
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafe L, Superti-Furga A, Unger S.
Am J Med Genet A. 2013;161A(12):3161-5.
Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies.
24039145
 FEMALE Adult
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafe L, Superti-Furga A, Unger S.
Am J Med Genet A. 2013;161A(12):3161-5.
Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies.