A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
We report on a consanguineous Lebanese family in which two sibs had pre- and post-natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. 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 with abnormal modeling, slight widening of the distal femoral metaphyses, and delayed epiphyseal ossification. Both sibs had a severe cardiomegaly and died at around 24 months from a heart failure. Differential diagnosis suggests that this is a second family presenting a newly described early lethal chondrodysplasia first reported by [Mégarbané et al. (2008); Am J Med Genet Part A 146A:2916-2919].
Unité de Génétique Médicale et Laboratoire Associe INSERM UMR S_910, Pôle Technologie Santé, Université Saint Joseph, Beirut, Lebanon.
André
A
Mégarbané
Cybel
C
Mehawej
Amir
A
El Zahr
Soha
S
Haddad
Valérie
V
Cormier-Daire
D001848:Bone Diseases, Developmental / Q000235:genetics; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D035781:Siblings
chondrodysplasia; delayed bone age; early death; platyspondyly; short stature