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. We report what might be a constellation of unreported skeletal abnormalities in a child with OFD type II (Mohr syndrome).

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. METHODS: Reconstructions were designed and performed in five patients with TAR syndrome, mainly comprising orthopaedic interventions to correct their upper limb defects. Additional lower limb deformities (severe internal rotation of the tibiae) was been encountered in one patient. RESULTS: The affected patients' wrists were re-aligned and stabilized and the musculotendinous forces around the wrist rebalanced to reverse the ulnar forearm bow. CONCLUSION: Patients with TAR syndrome who receive optimal treatment can expect to return to most activities of daily living with some limitation of wrist extension and ulnar deviation and, of course, with a reduced total active range of digital motion.

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. METHODS: All cases of DDH documented in Austrian hospitals from 1992 to 2008 were included in this retrospective study. The database of the Austrian Ministry of Health was used to extract documented diagnoses and treatments. RESULTS: Since the introduction of the screening program, the number of patients who require pelvic surgery to treat DDH has decreased by 46 % and the number of open reductions is as low as 0.16 per 1,000 live births. Hospital admissions for the treatment of DDH decreased from 9.5 to 3.6 per 1,000 live births. All noted results gained statistical significance. CONCLUSION: Compared with routine clinically based screening programs, our results confirm low numbers of open reductions and pelvic surgeries. We, therefore, advocate a standardized nationwide general ultrasound screening program to reduce the rates of operative interventions and hospital admissions associated with the treatment of DDH. LEVEL OF EVIDENCE: Level III, diagnostic.

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. However, it is unclear whether confounders such as failed Pavlik harness treatment, preliminary traction, closed versus open reduction, and redislocation influence the rate of ON. QUESTIONS/PURPOSE: We therefore asked whether open reduction with concomitant osteotomies without femoral shortening, redislocation, and secondary surgical procedures for residual acetabular dysplasia influenced the rate of ON. METHODS: We retrospectively reviewed 64 children (78 hips) hospitalized with developmental dislocation of the hip between January 1998 and February 2007. Patients younger than 12 months were treated with closed or open reduction. Open reduction combined with concomitant pelvic and femoral osteotomies was performed in patients past walking age. ON was diagnosed from radiographs obtained at last followup. We used logistic regression analysis to identify predictors for the development of ON. The minimum followup was 3.2 years (mean, 6.8 years; range, 3.2-11.5 years). RESULTS: The overall rate of ON was 40%. Patients who underwent open reduction combined with concomitant osteotomies, experienced redislocation, or required secondary reconstructive procedures after initial reduction were at higher risk for having ON develop. CONCLUSIONS: We advocate early reduction of the dislocated hip in the first year of life to avoid the need for concomitant osteotomies combined with open reduction.