Natacha Kadlub

The misdiagnosis of craniosynostosis as deformational plagiocephaly.

Deformational plagiocephaly, unilateral coronal craniosynostosis, and lambdoid craniosynostosis all cause oblique deformities of the skull. They are separate entities with different etiologies resulting in clear differences of physical examination, radiologic findings, and clinical course. Treatment for each condition is markedly different. Surgical intervention is recommended for unilateral coronal and lambdoid craniosynostosis using different techniques. Deformational plagiocephaly, on the other hand, is often satisfactorily managed with conservative treatment. We present 4 clinical reports on patients in whom unilateral coronal craniosynostosis and lambdoid craniosynostosis were originally misdiagnosed as occipital deformational plagiocephaly and highlight individual structural distinctions.

Fat graft transfer in children's facial malformations: A prospective three-dimensional evaluation ☆

INTRODUCTIONnAutologous fat grafting for volume augmentation in soft tissues has grown in popularity in the paediatric plastic surgery community, despite a lack of quantifiable evidence of graft survival and predictable outcomes for child patients. The objective of this study is to quantify, through an objective method, the rate of survival of fat grafting in childrens reconstructive surgery.nnnMETHODSnClinical evaluation of all children was performed under standardised conditions in a prospective fashion with a 1-year follow-up. All patients, under 18 years of age, were photographed with a three-dimensional imaging system. Data were analysed with three-dimensional analysing software to quantify the volume improvements postoperatively and during the follow-up.nnnRESULTSnEleven children were included and followed up for 12 months. The mean age was 7.4 years. The mean amount of fat grafted was 13 cm3. At the end of the follow-up, the mean survival rate of the fat grafted was 40%. Complementary fat grafts were needed in 27% of the cases. No significant complications occurred.nnnCONCLUSIONnUntil now, the literature has failed to provide objective evidence of fat survival in children. This study, using three-dimensional data, showed a 40% survival of grafted fat. The use of three-dimensional photographs and analysis has great clinical potential for surgical planning and follow-up.

The Calcineurin Inhibitor Tacrolimus as a New Therapy in Severe Cherubism

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement. Cherubism is caused by gain‐of‐function mutations in the SH3BP2 gene, leading to overactivation of nuclear factor of activated T cells, cytoplasmic 1 (NFATc1)‐dependent osteoclastogenesis. Recent findings in human and mouse cherubism have suggested that calcineurin inhibitors might be drug candidates in cherubism medical treatment. A 4‐year‐old boy with aggressive cherubism was treated with the calcineurin inhibitor tacrolimus for 1 year, and clinical, radiological, and molecular data were obtained. Immunohistologic analysis was performed to compare preoperative and postoperative NFATc1 staining and tartrate resistant acid phosphatase (TRAP) activity. Real‐time PCR was performed to analyze the relative expression levels of OPG and RANKL. After tacrolimus therapy, the patient showed significant clinical improvement, including stabilization of jaw size and intraosseous osteogenesis. Immunohistologic analyses on granuloma showed that tacrolimus caused a significant reduction in the number of TRAP‐positive osteoclasts and NFATc1 nuclear staining in multinucleated giant cells. Molecular analysis showed that tacrolimus treatment also resulted in increased OPG expression. We present the first case of effective medical therapy in cherubism. Tacrolimus enhanced bone formation by stimulating osteogenesis and inhibiting osteoclastogenesis.

Familial lambdoid craniosynostosis between father and son.

Lambdoid craniosynostosis is an uncommon condition, with an incidence of 1 per 33,000 live births. Its etiopathology remains controversial. Although many forms of syndromic and nonsyndromic craniosynostosis demonstrate an inherited pattern, few articles have reported lambdoid craniosynostosis in the same family. In this article, we report lambdoid synostosis in a father and son. A case review is performed. A full-term male infant was delivered by cesarean delivery because of failure to progress. He presented at 3 years of age with right unilateral lambdoid craniosynostosis with facial asymmetry and lateral deviation of his jaw, with occlusal abnormality. At presentation, the father reported skull surgery during his infancy for unilateral lambdoid craniosynostosis. Review of the computed tomographic scan of the child demonstrated a plagiocephalic appearance of the calvarium with frontal bossing and a fusion of the lambdoid suture on the right sides. The brain parenchyma showed no abnormality. The review of his fathers surgical record from 33 years ago and of his computed tomographic scan ordered by our team confirmed the diagnosis of previous lambdoid craniosynostosis. Only 2 previous cases of familial isolated lambdoid craniosynostosis have been previously described in literature. Although the genetic basis has been established for many types of craniosynostosis, the etiopathogenesis of isolated lambdoid synostosis has not yet been established. We report the third case of inherited unilateral lambdoid craniosynostosis. The genetic pathogenesis of lambdoid craniosynostosis will be discussed.

Continuous Positive Airway Pressure for Upper Airway Obstruction in Infants with Pierre Robin Sequence.

Summary: The aim of the study was to evaluate noninvasive continuous positive airway pressure as first-line treatment for upper airway obstruction in neonates with Pierre Robin sequence. Forty-four neonates were enrolled and classified in 4 groups: ventilator-dependent patients (severe upper airway obstruction group), patients with clinical upper airway obstruction, an abnormal (moderate upper airway obstruction group) or normal polygraphy (mild upper airway obstruction group), and those with no clinical upper airway obstruction (no upper airway obstruction group). Five neonates in the severe upper airway obstrction group (n = 9) were successfully managed by noninvasive continuous positive airway pressure and 4 required a tracheotomy. The moderate upper airway obstruction group (n = 4) was successfully managed by noninvasive continuous positive airway pressure and the other patients by prone positioning. Continuous positive airway pressure represents an effective treatment of upper airway obstruction in Pierre Robin sequence and may be recommended in selected patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Head and neck teratoma: From diagnosis to treatment

INTRODUCTIONnHead and neck teratoma is a rare entity. Its prognosis mostly depends on the risk of neonatal respiratory distress, its extension and potential malignancy. Surgical management must be as complete as possible to avoid recurrences and malignant transformation. The authors present a retrospective analysis of 6 cervicofacial teratomas and a review of the literature. The aim of the study was to analyse prenatal, neonatal and postnatal management of teratoma.nnnMATERIALS AND METHODSnCharts of children presenting with a head and neck teratoma, managed by our maxillofacial and plastic surgery unit, were analysed and antenatal, clinical, biological, radiological and pathological characteristics were collected. Surgical treatment, recurrences and surgical outcomes were analysed.nnnRESULTSnSix patients were included: 2 with a cervical teratoma, 2 with a facial teratoma and 2 with intraoral teratomas. In 2 cases, the lesions were diagnosed antenatally and both patients required neonatal resuscitation. All the patients underwent early surgery, and 3 with complete excisions. All patients with an initial incomplete excision eventually presented a recurrence and therefore second look surgery. No malignant transformation was noted.nnnCONCLUSIONnEarly prenatal diagnosis is crucial to neonatal care. Early surgery and meticulous follow-up are critical in the long-term favourable outcome.

Infant Odontogenic Myxoma: A specific entity

INTRODUCTIONnIn children, and specifically in infants, odontogenic myxomas are extremely rare. In infants, myxoma seems to display mostly the same clinical, radiological and pathological characteristics. This paper presents a series of odontogenic myxomas in infant patients.nnnMATERIALS AND METHODSnFour infant patients were included in this retrospective study. The clinical, radiological and pathological presentation was characterized and the treatment analysed.nnnRESULTSnAll patients presented with a rapidly evolving paranasal swelling. CT-scan showed a maxillary homogeneous unilocular and intraosseous tumour. In all cases, pathological examination revealed a loose myxoid stroma within stellate and spindle shaped cells. All patients underwent conservative surgery through a vestibular approach.nnnCONCLUSIONnThis patient series and a review of the literature demonstrates that odontogenic myxoma is specific in infant. We propose the name of Infant Odontogenic Myxoma for this entity.

Specificity of paediatric jawbone lesions: tumours and pseudotumours.

INTRODUCTIONnCharacteristics and epidemiology of jaw tumours have been described mostly in adults. Compared with their adult counterparts, childhood jaw tumours show considerable differences. The aim of this study was to describe the different jaw tumours in children, define diagnostic tools to determine their specificity and describe optimal treatment.nnnMETHODSnAll children patients with jaw lesions, excluding cysts, apical granuloma and osteitis were included in our study between 1999 and 2009. The medical records were analyzed for clinical, radiological, and pathological findings, treatments and recurrences.nnnRESULTSnMean patient age was 10.9 years old, ranging from 2 months to 18 years old. Of the 63 lesions, 18 were odontogenic and 45 non-odontogenic lesions. 6% of all cases were malignant tumours; the mean age of presentation was 7.25 years old, [ranging from 0.2 to 18 years old]. Approximately 80% of the tumours developed after 6 years of age. Odontogenic tumours occurred more often after the age of 6.nnnCONCLUSIONnCompared with their adult counterpart, childhood jaw tumours show considerable differences in their clinical behaviour and radiological and pathological characteristics. Clinical features of some tumours can be specific to children. Tumourigenesis is related to dental development and facial growth. Conservative treatment should be considered.

Unusual costochondral bone graft complication

In hemifacial microsomia, patients with severely hypoplastic mandibles (Pruzansky type III) require replacement of the ramus and condyle unit. Common complications of this procedure include graft fracture and overgrowth of the graft. An uncommon case of osteolysis of the costochondral graft with osteitis of the middle cranial fossa is reported herein. To our knowledge, no such case has been reported in the literature previously. The aim of this report is to present the only known case and to discuss the contributing factors.

Immediate or delayed nasal reconstruction in infant after subtotal amputation? Nasal reconstruction with forehead flap in a 2-year-old child.

Nasal reconstruction using the forehead flap is one of the oldest recorded reconstructive procedures. The forehead flap is considered a standard for reconstruction of large defect. Most of reports concerning the forehead flap in nasal reconstructions deal with adults. Nasal reconstruction in infants raises some controversies, and very few articles report nasal reconstruction in the infants. A 15-month-old boy was presented after subtotal nasal amputation, after a dog bite. Microsurgical replantation was performed, but proved unsuccessful. The wound healed with debridement and local care. At age 2, nasal reconstruction was performed with autogenous ear cartilage and forehead flap. The reconstructed nose currently appears to be of good color, texture match, and functional. To our knowledge, few reconstructions of acquired nasal deformities using a forehead flap have been previously reported in infants. This 2-year-old patient may be among the youngest to have undergone this procedure. The forehead flap can be applied in very young children with reasonable expectations of excellent functional and esthetic outcome. Long-term results remain to be seen regarding nasal function and growth.