A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V.
Mégarbané A, et al.
Am J Med Genet A. 2014 Apr;164A(4):1010-4. doi: 10.1002/ajmg.a.36372. Epub 2014 Jan 23.
Am J Med Genet A. 2014.
PMID: 24458487
Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac bones, horizontal acetabula, trident acetabula, hypoplastic ischia, partial agenesis of the sacrum, ribs with cupped ends, short long bones …
Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac …