Soft-Tissue Surgery for Camptodactyly Corrects Skeletal Changes.

BACKGROUND: This study demonstrates the potential for radiographic and clinical improvement with surgical correction of camptodactyly. Although historically these radiographic changes have been held to be permanent, the authors encourage surgical intervention for digits with severe flexion contracture or progressive radiographic changes before skeletal maturity is reached. METHODS: The authors assessed 18 consecutively operated fingers in nine skeletally immature patients in whom advanced radiographic articular changes had occurred. Mean preoperative flexion contracture was 63 degrees (range, 35 to 105 degrees). The average age of the patients was 11 years (range, 4 to 15 years) at the time of surgery. Clinical response to surgery was studied, but radiographic articular changes were followed postoperatively as a primary outcome. RESULTS: Each patient demonstrated the classic preoperative radiographic joint changes on radiographic films at the affected proximal interphalangeal or distal interphalangeal joint. All patients had substantial clinical improvement postoperatively. Two digits had extensive radiographic damage, requiring proximal interphalangeal joint arthrodesis. Fifteen of the remaining 16 digits (94 percent) had substantial improvement or full restoration of radiographic articular congruency at average follow-up of 9 months (range, 3 to 18 months). The only joint that did not remodel fully was the one that did not have complete clinical correction. CONCLUSIONS: Even in patients with severe radiographic changes from camptodactyly, surgery can effectively improve range of motion. Once radiographic articular changes become apparent, surgical correction should be undertaken not only to prevent further joint damage but also to reverse these radiographic changes before skeletal maturity is reached. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.

Freeman-Sheldon syndrome: dental and orthodontic implications.

The manifestations of the Freeman-Sheldon syndrome (FSS) in four members of a South African family of Xhosa stock have been documented. Orofacial manifestations are a major syndromic component and warrant early, specialized orthodontic intervention. Our protocol for dental management is outlined and suggestions for holistic oro-dental care are provided.

Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

Hand involvement in Schmid metaphyseal chondrodysplasia.

Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait. Radiographic findings include anterior cupping, sclerosis and splaying of the ribs, diffuse metaphyseal flaring, and irregularity that is most pronounced at the knees, coxa vara, and femoral bowing. We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement. We found hand involvement in 47% (7/15) of cases included in our analysis. These changes were subtle and consisted of shortening of the tubular bones and metaphyseal cupping of the proximal phalanges and metacarpals. Mild hand involvement is a common feature of Schmid MCD.

[Central agenesis of the hand]. / Les agénésies centrales de la main.

Central aplasia represent under 10% of congenital malformations of the hand. It is characterised by the partial or complete absence of the median ray. We adopted the classification of Swanson and considered this anomaly a stop of median longitudinal development. We separate 2 groups: Hand in folk: the aplasia interested only the median digits, all metacarpal are present. Hand in lobster's pincer: all median rays are absent including the metacarpal. We report a set of 16 children carriers of 23 central aplasia of the hand, it was about 14 hands in lobster'pincer and 9 hands in folk. In any case, the gene was merely aesthetic, the hand's function was complete. A child has been operated, and benefitted a closing of the median crack defect, he had a free thumb. For the other cases, abstention has been decided, indeed to close this cracks deprive these hands of a first corner the alone present.