Sedaghatian spondylometaphyseal dysplasia in two siblings

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Authors
Peshimam, N.
Farah, H.
Caswell, R.
Ellard, S.
Jan, W.
Calder, A. D.
Cobben, J.
Kariholu, U.
Leitch, H. G.
Issue Date
2022-08-01
Type
Journal Article
Language
eng
Keywords
Humans , Infant, Newborn , *Osteochondrodysplasias/diagnostic imaging/genetics , Radiography , Retrospective Studies , *Siblings , Sedaghatian type , Skeletal dysplasia , Spondylometaphyseal dysplasia
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Alternative Title
Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Diagnosis in the neonatal period led to retrospective genetic diagnosis of a previous affected pregnancy that was terminated due to severe ventriculomegaly. We suggest that a diagnosis of SSMD should be considered when shortened long bones are found in combination with significant brain abnormalities.
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Citation
Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16.
Publisher
Elsevier
Journal
European journal of medical genetics
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