Cleft Lip and Palate Repair.

INTRODUCTION: Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. METHODS: Data regarding patients presenting with primary diagnosis of cleft lip and/or palate, between 2009 and 2015, were reviewed. Details including demographics, type of cleft, presence of known risk factors, surgical details, and follow-up visits were collected. Documented complications were reported. Caregivers' satisfaction was assessed with a survey. The survey used to assess satisfaction with cleft-related features was based on the cleft evaluation profile (CEP). In addition, 4 assessors used visual analog scale (VAS) to assess the aesthetic satisfaction. RESULTS: Seven hundred fifty-two patients with primary diagnosis of cleft lip and/or palate underwent surgical correction at "S. Chiara" Hospital, 432 (57.45%) male and 320 (42.55%) female. The most common cleft types in our study were incomplete cleft palate (152 patients) and left unilateral complete cleft lip and palate (152 patients). Associated syndromes were found in 46 patients (6.12%). Cleft lip was repaired using a modified Tennison-Randall technique when the defect was unilateral, whereas a modified Mulliken technique was used for bilateral cleft lip. Cleft palate was repaired using the Bardach technique or Von Langenbeck technique at 5 to 6 months of age. Cleft lip and palate was repaired in several surgical steps. In total, complications were reported in 81 of 752 patients (14.16%). Average fathers' satisfaction score assessed using CEP was 4.5 (lip), 4.8 (nose), 4.7 (teeth), 4.8 (bite), 4.2 (breathing), 4.6 (profile). Average mothers' satisfaction score assessed using CEP was 4.3 (lip), 4.6 (nose), 4.4 (teeth), 4.5 (bite), 4.1 (breathing), 4.4 (profile). Average level of aesthetic satisfaction, assessed using VAS, was 8.7 (fathers), 8.1 (mothers), 7.9 (lay person), and 8.0 (senior cleft surgeon). CONCLUSION: 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.

Popliteal Pterygium Syndrome With Syngnathia.

Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations. He was born with complete bilateral cleft lip and complete cleft palate on the left side and incomplete cleft palate on the right side and syngnathia with 4 fibrous bands between the mandibular arch and the maxilla arch on the right side, which affected the opening of the mouth. The case of our patient is very interesting because there have been few reported patients affected by popliteal pterygium syndrome with syngnathia.

Deforming Mucocutaneous Leishmaniasis of the Nose.

The authors present a clinical report of deforming mucocutaneous leishmaniasis of the nose in a native American woman, left untreated for 25 years. The nose was reconstructed using the local tissue displaced as flaps, and using cartilage grafts taken from the nasal septum and the ear shell. To the best of the authors' knowledge, the literature offers just 1 report on a similar patient.

Partial Lipodystrophy and LMNA p.R545H Variant.

Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified. We herein examine the case of a patient carrying a heterozygous LMNA c.1634G>A (p.R545H) variant with a mild, transient myopathy, who was referred to our center for the suspicion of lipodystrophy. At physical examination, an abnormal distribution of subcutaneous fat was noticed, with fat accumulation in the anterior regions of the neck, resembling the fat distribution pattern of familial partial lipodystrophy type 2 (FPLD2). The R545H missense variant has been found at very low allelic frequency in public databases, and in silico analysis showed that this amino acid substitution is predicted to have a damaging role. Other patients carrying the heterozygous LMNA p.R545H allele have shown a marked clinical heterogeneity in terms of phenotypic body fat distribution and severity of organ system involvement. These findings indicate that the LMNA p.R545H heterozygous variant exhibits incomplete penetrance and highly variable expressivity. We hypothesized that additional genetic factors, epigenetic mechanisms, or environmental triggers might explain the variable expressivity of phenotypes among various patients.

Mesangiogenic Progenitor Cells Are Tissue Specific and Cannot Be Isolated From Adipose Tissue or Umbilical Cord Blood.

Mesangiogenic progenitor cells (MPCs) have been isolated from human bone marrow (BM) mononuclear cells. They attracted particular attention for the ability to differentiate into exponentially growing mesenchymal stromal cells while retaining endothelial differentiative potential. MPC power to couple mesengenesis and angiogenesis highlights their tissue regenerative potential and clinical value, with particular reference to musculoskeletal tissues regeneration. BM and adipose tissue represent the most promising adult multipotent cell sources for bone and cartilage repair, although discussion is still open on their respective profitability. Culture determinants, as well as tissues of origin, appeared to strongly affect the regenerative potential of cell preparations, making reliable methods for cell isolation and growth a prerequisite to obtain cell-based medicinal products. Our group had established a definite consistent protocol for MPC culture, and here, we present data showing MPCs to be tissue specific.

Effect of lip adhesion on maxillary arch alignment and reduction of a cleft's width before definitive cheilognathoplasty in unilateral and bilateral complete cleft lip.

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.

Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.

OBJECTIVE: Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first. METHODS: This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out. RESULTS: We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects. CONCLUSIONS: 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.

Bone regeneration and periosteoplasty: a 250-year-long history.

BACKGROUND: Since antiquity, many attempts have been carried out and a number of theories proposed to explain the process that leads to bone regeneration. Through manifold experiments, several authors tried to understand and subsequently to control the physiological events that enable bone healing. Between the 18th and 19th centuries something changed. Although the scientific world was initially skeptical, a new idea emerged in the field of bone surgery. It principally concerned the necessity to perform amputations and resections leaving intact the periosteum to obtain new bone formation. MATERIALS AND METHODS: With this article we emphasize the contribution of many authors in the development of knowledge about the osteogenic properties of the periosteum. In particular we focus on the experiences of unknown Italian authors Michele Troja and Bernardino Larghi, consider well-recognized scientific personalities such as Leopold Ollier and Bernhard von Langenbeck, and reach a milestone of plastic surgery with Tord Skoog and his description of periosteoplasty. CONCLUSION: Various surgical approaches have been proposed to provide optimal care for patients with cleft lip and palate disorders. Among several treatment options, periosteoplasty is one of the choices to correct maxillary clefts. Highlighting difficulties and successes of many authors in demonstrating osteogenic properties of periosteum, this paper describes how periosteoplasty performed in maxillary cleft restoration capitalizes on what has been discovered during a 250-year-long history.

Dystrophic-like alterations characterize orbicularis oris and palatopharyngeal muscles in patients affected by cleft lip and palate.

OBJECTIVE: This study analyzed histological and histochemical features of specimens of the orbicularis oris muscle, and palatal and pharyngeal muscles biopsied during surgery from 33 patients affected by cleft lip and palate. DESIGN: Three groups were studied: 20 patients affected by cleft palate with or without cleft lip (at the time of primary palatoplasty), seven by cleft lip with or without cleft palate (primary lip closure), and six by cleft lip with or without cleft palate (secondary cheiloplasty). Muscle sections were stained with hematoxylin-eosin, modified Gomori trichrome, ATPase reaction at pH 9.4, and NADH-TR. Analyzed parameters included organization, muscle fiber size and type, nuclear changes, presence of ragged-red fibers, degree of fibrosis, and presence of inflammatory infiltrate. RESULTS: In all patients who underwent primary palatoplasty and lip closure we noted dystrophic-like alterations of orbicularis oris and palatopharyngeal muscles, such as variability of fiber size, fiber disorganization, and increased fibrosis. The same alterations were found in adult patients submitted to secondary cheiloplasty, notwithstanding surgical repair. Furthermore, in all groups neither neurogenic atrophy nor ragged-red fibers or inflammatory infiltrate were detected. CONCLUSIONS: Muscle damage is a constant event in this deformity, and it could play an important role in its etiopathogenesis. Muscular biopsy during cheiloplasty and palatoplasty could offer useful information about muscle condition and possible functional recovery in cleft lip and palate patients.