An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia).
We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical features of craniosynostosis, gross oedema, short limbs, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia.
Nevin
N C
NC
Department of Medical Genetics, Belfast City Hospital Trust, UK.
Herron
B
B
Armstrong
M J
MJ
D000015:Abnormalities, Multiple / Q000196:embryology*; D003238:Connective Tissue / Q000002:abnormalities / Q000196:embryology; D003398:Craniosynostoses / Q000196:embryology; D004487:Edema / Q000196:embryology; D005121:Extremities / Q000196:embryology; D005333:Fetus / Q000002:abnormalities*; D006225:Hand / Q000196:embryology; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000196:embryology / Q000473:pathology; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome