title: A female case of Sedaghatian type spondylometaphyseal dysplasia.
abstract: Sedaghatian type spondylometaphyseal dysplasia is a rare osteochondrodysplasia first described in 1980. The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after birth. The baby was born to a consanguineous couple who had reportedly had two similarly affected infants, one male and one female. No documented radiology is available on the female infant. Since this publication, 10 further case reports of male infants with this condition have appeared in the literature all of whom have died shortly after birth. We report a fully documented female case of Sedaghatian type spondylometaphyseal dysplasia providing further evidence to support an autosomal recessive mechanism of inheritance.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom. nfoulds@sghms.ac.uk
authors.forename: Nicola
authors.initials: N
authors.lastname: Foulds
authors.forename: Jo
authors.initials: J
authors.lastname: Fairhurst
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
authors.forename: Steven
authors.initials: S
authors.lastname: Cade
authors.forename: Charlotte
authors.initials: C
authors.lastname: Groves
authors.forename: Tessa
authors.initials: T
authors.lastname: Lancaster
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D006113:United Kingdom