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Spondyloepimetaphyseal dysplasia with hypotrichosisSpondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndrome.
Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndrome.
Clin Dysmorphol. 1997 Jan;6(1):3-12
Authors: Rao V, Morton RE, Young ID
The clinical and radiological features are described in male and female siblings with a unique form of spondyloepimetaphyseal dysplasia. In addition to generalized platyspondyly with epiphyseal and metaphyseal involvement, these children also have thin tapering fingers with accentuated palmar creases and abnormal dentition with oligodontia and pointed incisors. Parental consanguinity suggests that this is an autosomal recessive disorder.
PMID: 9018411 [PubMed - indexed for MEDLINE]