Premium
Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy
Author(s) -
Sousa Sérgio B.,
RussellEggitt Isabelle,
Hall Christine,
Hall Bryan D.,
Hennekam Raoul C.M.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32576
Subject(s) - dystrophy , medicine , cone (formal languages) , dysplasia , orthodontics , computer science , pathology , algorithm
There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone‐rod dystrophy, without other significant impairments. The entity was named SMD‐CRD. We further delineate this disorder by reporting on a 16‐year‐old boy and a pair of twins with this entity. Possible etiologies are discussed. The boy showed low α‐neuraminidase activity levels in fibroblasts, but normal levels in leucocytes. The meaning of this finding remains as yet unknown. © 2008 Wiley‐Liss, Inc.