Short rib‐polydactyly syndrome in twins: Beemer‐Langer type with poly dactyly

Elçioğlu, Nursel; Karatekın, Güner; Sezgin, Billur; Nuhoğlu, Asiye; Cenani, Asım

doi:10.1111/j.1399-0004.1996.tb02373.x

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2000

2017

Publication Types

Select...

Book3

Article1

Other1

Relationship

Self Cite0

Independent5

Authors

Journals

Cited by 9 publications

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Francomano

Allen

2000

Am. J. Med. Genet.

View full text Add to dashboard Cite

Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.

show abstract