Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.
Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected.
Tan
Tiong Yang
TY
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
McGillivray
George
G
Kornman
Louise
L
Fink
A Michelle
AM
Superti-Furga
Andrea
A
Bonafé
Luisa
L
Francis
David I
DI
Savarirayan
Ravi
R
D027321:Anion Transport Proteins; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D026901:Membrane Transport Proteins; D009154:Mutation; D011247:Pregnancy; D011859:Radiography; D000076988:Sulfate Transporters; D016216:Ultrasonography, Prenatal
D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters