The Scapuloiliac Dysostosis (Kosenow Syndrome) Spectrum – Two Additional Cases

Abstract

Scapuloiliac dysostosis (also known as Kosenow syndrome, Pelvis-Shoulder Dysplasia)(MIM 169550) is a rare skeletal dysplasia which usually demonstrates extreme hypoplasia of the scapulae and ilia. The clavicles are also often affected (hypoplastic or elongated). Other radiological findings which have been reported include: lordosis of the lumbosacral spine, rounded appearance of the vertebral bodies (in infancy), rib anomalies and overconstriction of the femora. Dysmorphic features can include eye and ear abnormalities. We present two unrelated patients with Scapuloiliac Dysostosis, each of whom has additional abnormalities not previously reported in the literature. Patient #1 was an adult female with primary amenhorrea, features of Turner syndrome and a normal female karyotype. She also had partial hearing loss and hydronephrosis. In addition to her hypoplastic scapulae and ilia, she had lumbar lordosis and severe spinal dysraphism in the (lower lumbar) sacral region. The femoral heads were small with severe coxa vara. Patient #2 was a stillborn male with multiple skeletal abnormalities and malformations. Clinically, he had microphthalmia, short palpebral fissures, ambiguous genitalia and clubbed feet. Chromosomes were normal male. Radiologically, apart from the hypoplastic scapulae and ilia, he had a bell-shaped chest with thin ribs. There were radial head dislocations of the elbows, bilaterally. The proximal femoral area did not articulate with any ossified structure and the fibulae were absent. Kosenow syndrome seems to represent a spectrum of disorders including patients with only pelvic involvement to patients with multiple malformations in addition to the hypoplastic scapulae and ilia. This entity appears to exhibit genetic heterogeneity, as both autosomal dominant and recessive inheritance have been suggested.