These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.

The multidisciplinary management of children with oral cleft determinated good results, in terms of satisfaction and aesthetic appearance. From our experience, periosteoplasty and lip-adhesion are key surgical techniques.

Homozygous null mice for thyroid transcription factor (TTF)-2 gene exhibit cleft palate and thyroid malformation. We performed a genetic analysis of the TTF-2 gene in 2 children with congenital hypothyroidism (CH) and cleft palate, 45 children with thyroid dysgenesis, 19 children with isolated cleft palate or cleft lip, 4 patients with thyroid hemiagenesis. The entire coding-region of the TTF-2 gene was analyzed by direct sequencing. Direct sequencing of the TTF-2 gene revealed polymorphisms in the length of the polyalanine tract. The most frequent stretch length was 14 residues and it was found in 50 of 70 (71%) and in 45 of 53 (85%) normal healthy controls. A polyalanine tract of 16 residues in the heterozygous state was seen in 18 of 70 (26%) cases and in 4 of 53 (7%) normal subjects. In 1 of 4 (25%) case of hemiagenesis a polyalanine tract of 16 residues in the homozygous state was observed. In 1 of 26 agenesis the polyalanine tract consisted of 12 residues in the heterozygous state. Direct sequencing also revealed the presence of two silent polymorphisms. No mutations were identified in the TTF-2 gene. In conclusion, our results show that no genetic alteration was present in the TTF-2 gene of these patients, suggesting that defects in the TTF-2 gene are a rare event.

High tension and tissue dislocation caused by wide maxillary clefts could prevent an optimal aesthetic and functional outcome in primary cheilognathoplasty. Many surgical techniques or conservative (orthodontic and orthopaedic) devices have been proposed for the initial management of infants with complete cleft lip and palate to achieve a tension-free repair of the lip. Adhesion converts a wide unilateral complete cleft into a lesser deformity anatomically similar to an incomplete cleft lip. This study aimed to measure the effect of lip adhesion on the width of maxillary clefts. Between 2000 and 2007 lip adhesion was used on 49 consecutive infants affected by complete unilateral (n = 35) and bilateral (n = 14) cleft lip and palate. The indication for lip adhesion was the presence of a wide alveolar cleft (gap > 7 mm) with severely malpositioned maxillary segments. Lip adhesion was done at about 48 days, followed by definitive cheilognathoplasty at 98 days. Photographs and impressions were obtained before any operation. The width of the maxillary clefts was reduced by 60% in unilateral clefts and 61% in bilateral clefts. By converting a complete wide cleft lip to an incomplete cleft in both unilateral and bilateral clefts, adhesion of the lip achieved a better position and stabilised the arch in a symmetrical platform that eased both definitive closure of the defect in the lip and the restoration of the maxillary gap by periosteoplasty during definitive cheilognathoplasty.

Creams containing thyroid hormone are commonly employed for cosmetic purposes. To verify whether T(4) applied to the skin surface can enter the bloodstream either directly or as a metabolite, a cream containing L-T(4) [3,5,3',5'-tetraiodothyronine (T(4))] was self-applied by volunteers for 2 wk. No significant variations in urinary iodide, TSH, and serum (total and free) T(4) and T(3) concentrations were observed at any time relative to pretreatment values, whereas rT(3) concentrations increased significantly 6 and 12 h after cream application. The increased rT(3) concentration led us to investigate the presence of inner ring type III deiodinase (D3) activity in human skin. Using human surgical discard skin, we found that T(4) can be carried across human epidermis in a liposome cream. Substantial inner ring deiodination was suggested by the fact that only 10% of transferred thyroid hormone remained as T(4), and T(3) was not detected. We then measured D3 activity in a surgical skin specimen. The K(m) for T(3) was 1.74 nmol/liter, and the maximum velocity was 23.5 fmol/microg microsomal protein/h. In conclusion, our study indicates that normal human skin serves as a substantial, but incomplete, barrier to T(4) passage. D3 plays an important role in augmenting T(4) blockade by inactivating T(4) to rT(3).