11/131. Early treatment of severe mandibular hypoplasia with distraction mesenchymogenesis and bilateral free fibula flaps. The technique of distraction has revolutionized the treatment of mandibular hypoplasia; however, presently large mandibular defects still require bone grafts. Microvascular grafting is commonly used in adults. Conversely, in pediatric reconstruction, nonvascularized rib grafts remain standard. Unfortunately, resorption of nonvascularized bone remains a major issue, particularly when soft tissue is hypoplastic. This case study represents a combination of techniques in the treatment of severe mandibular deficiency, and introduces the concept of distraction mesenchymogenesis. The patient was a 2 1/2-year-old boy with severe bilateral Pruzansky class III mandibular hypoplasia. He had a permanent open mouth posture, an overjet of 23 mm, and was unable to move the lower mandibular segment. His oropharyngeal airway diameter was 2.2 mm and he was tracheostomy dependent. The patient was treated with distraction of the lower jaw mesenchyme followed by bilateral functional free fibular microvascular flaps containing reinnervated muscle. This created a well-vascularized body, ramus, and condyle bilaterally within an adequate soft-tissue envelope. Postoperatively, the overjet was reduced to 5 mm. The patient can now actively move his mandible. Airway diameter increased to 10 mm, and the patient is able to tolerate intermittent tracheostomy plugging. This innovative combination of techniques allows early intervention, limits graft resorption, and improves airway control. ( info) |
12/131. Oto-mandibulo-facial dysostosis: a case report. The case presented here is a 6 year old male child with oto-mandibulo-facial dysostosis syndrome. Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral ear anomalies or preauricular tags to severe ones involving anotia and mandibular hypoplasia. ( info) |
13/131. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Bilateral temporal bone specimens from a 21-month-old girl and a left temporal bone-eustachian tube (ET) specimen from a full-term female newborn, both with oculoauriculovertebral spectrum, were studied histopathologically. The external and middle ears demonstrated severe anomalies, similar to those of previous reports describing the histopathologic findings of this syndrome. In addition, despite having a normal auricle, the 21-month-old child had bilateral hypoplastic cochleas as seen in Mondini dysplasia. The newborn had several anomalies of the ET, including a widely opened cartilaginous portion of the ET lumen and absence of the lateral lamina of the ET cartilage. We discuss the implications of the observed anomalies with regard to developmental and clinical issues. ( info) |
14/131. Tracheal intubation using suspension laryngoscopy in an infant with Goldenhar's syndrome. We present a case of a ten-month-old boy with Goldenhar's syndrome and significant retrognathia in whom a tracheostomy was performed to relieve upper airway obstruction. Tracheal intubation was facilitated by direct suspension laryngoscopy using a slotted rigid laryngoscope. We propose this technique as an alternative method for tracheal intubation in infants and young children with a difficult airway. The management of the difficult airway in children with Goldenhar's syndrome is discussed. ( info) |
15/131. Goldenhar's syndrome associated with occipital meningoencephalocele--case report. A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. Three-dimensional computed tomography images clearly showed a suboccipital cranial cleft extending to the foramen magnum and hypogenesis of the left temporal bone. The patient died of heart failure due to ventricular septal defect at age 5 months. ( info) |
16/131. pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromes. A 4-year-old boy presented with Goldenhar's syndrome, Duane's syndrome and bilateral papilledema. magnetic resonance imaging of the brain was unremarkable. On lumbar puncture, the cerebrospinal fluid (CSF) pressure measured 36 cm H(2)O. CSF examination was normal. The diagnosis of pseudotumor cerebri was made, and treatment with acetazolamide was started. As the papilledema did not resolve, steroids were added to the treatment. Lumbar puncture was repeated after 1 month, and pressure was found to be 30 cm H(2)O. Because medical treatment was not effective in lowering the CSF pressure, optic nerve sheath fenestration was performed. papilledema resolved over the next 2 months. To the best of our knowledge, this is the first case of Goldenhar's syndrome associated with pseudotumor cerebri. ( info) |
17/131. Goldenhar's Syndrome. A 12-year-old male was admitted with postaxial polydactyly on the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry. Investigations confirmed the diagnosis of a congenital disease, Goldenhar's syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance. ( info) |
18/131. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals. RESULTS: Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85). CONCLUSIONS: Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration. ( info) |
19/131. Delayed presentation of pseudoaneurysm after Le Fort I osteotomy. Although the osteotome is positioned in close vicinity to the maxillary artery and its branches during ptergomaxillary separation in a Le Fort I osteotomy, postoperative complications from vascular injuries are rare. The following report describes an unusual occurrence of a maxillary artery pseudoaneurysm following a Le Fort I and bilateral sagittal-split osteotomies for correction of mandibular and maxillary asymmetries in a patient with goldenhar syndrome. This was recognized 8 months after the procedure when the patient developed acute facial swelling and required an emergent angiogram for uncontrolled bleeding. Vascular anatomy in the ptergomaxillary area is reviewed. A level of suspicion of occult vascular injuries in patients with sudden onset of unilateral facial swelling after orthognathic surgery, even months after the procedure, is recommended. ( info) |
20/131. Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomia. Microvascular temporomandibular joint (TMJ) and mandibular ramus reconstruction was performed in a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (goldenhar syndrome). Her major craniofacial anomalies included bilateral cleft lip and palate, left macrostomia, left microtia, and complete absence of the left vertical mandibular ramus and TMJ. Most of her other anomalies had been corrected surgically before TMJ and vertical mandibular ramus reconstruction, which was accomplished with a metatarsophalangeal (MTP) joint transplantation. The MTP joint was placed in hyperextended position in the skull base inserting the proximal phalanx under the remnants of the zygomatic arch and replacing the vertical mandibular ramus with the metatarsal bone. Straight mouth opening, correction of the midline, and normalized lateral movements of the mandible were accomplished. The graft includes two epiphyseal plates, which should maintain growth of the transplant. During the follow-up period (16 months) the achieved results have been maintained without adverse effects. The present technique appears to be a promising alternative in the treatment of children with Pruzansky type 3 hemifacial microsomia. ( info) |