Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. Interestingly, we encountered variable minor malformations in his parents, confirming the autosomal recessive pattern of inheritance. There were no microdeletions or microduplications after performing array-CGH-analysis.

Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.

Objective: Developmental abnormalities of the appendicular skeleton are among the most common and easily identified birth defects. The aim of this report was to describe the phenotypic characterization of several patients with thrombocytopenia-absent radius (TAR) syndrome and the orthopaedic interventions performed on them. TAR syndrome is inherited in an autosomal recessive manner and results from compound heterozygosity of RBM8A mutations.

Long-term results of a nationwide general ultrasound screening system for developmental disorders of the hip: the Austrian hip screening program.

Background: Diagnosis and early treatment of developmental dysplasia of the hip (DDH) continue to be issues of discussion. In 1992, a nationwide general ultrasound screening program using Graf technique was introduced to detect DDH in Austria. We investigated the effects of this program on the rates of operative and conservative interventions and the influence of the program on the number of hospital admissions for the treatment of DDH.

Does open reduction of the developmental dislocated hip increase the risk of osteonecrosis?

Background: Osteonecrosis (ON) of the femoral head is one of the main complications associated with treatment of developmental dysplasia of the hips (DDH). The reported rates of ON vary widely between 6% and 48%, suggesting varying factors in these studies influence the rate. Several studies suggest open reduction combined with femoral shortening provides protection against ON.