Calvarial sutural abnormalities: metopic synostosis and coronal deformation--an anatomic, three-dimensional radiographic, and pathologic study

The purposes of this study were (1) to evaluate the histologic differences between synostotic versus deformational suture abnormalities and (2) to correlate these histologic findings with anatomic and three-dimensional computed tomographic (CT) scans. We examined three infants with premature metopic synostosis; one infant also had microcephaly trisomy 13 and curious overriding of the coronal sutures. The three-dimensional CT scans demonstrated obliteration of the metopic suture inferiorly. Histologic sections of this suture showed complete bony stenosis. The same pattern was found in all three infants, including the two infants with trigonocephaly who did not have trisomy 13 or microcephaly. In the trisomy 13 infant, the overlapped inferior coronal suture was obliterated on CT examination. However, histologic sections in this region showed a merging of bone; there was no synostosis. In summary, three-dimensional CT re-formation correlated with metopic suture histology. "Stenotic" fusion existed in all infants with trigonocephaly, those with normal and abnormal karyotypes, with and without microcephaly. However, three-dimensional CT re-formation of the trisomic infant showed opacification of the coronal suture in the areas of greatest overlap, whereas histology revealed a curious bone remodeling pattern, possibly a precursor to "deformational" craniosynostosis.     

Facial infiltrating lipomatosis.

Facial infiltrating lipomatosis is a rare congenital disorder in which mature lipocytes invade adjacent tissue. The phenotypic features include soft-tissue and skeletal hypertrophy, premature dental eruption, and regional macrodontia. There is a high risk for regrowth after resection that is, perforce, subtotal. The etiology, natural history, optimal management, and relationship to other disorders of fatty overgrowth are unclear. In this study, the clinical features, radiographic findings, histopathology, and postoperative results were analyzed in 13 patients with facial infiltrating lipomatosis. The condition was diagnosed in infancy (eight male subjects, five female subjects) and characterized by enlargement of the cheek (n = 12) or chin (n = 1). Other findings included cutaneous capillary blush (n = 9), ipsilateral macroglossia (n = 8), and mucosal neuromas (n = 6). Most patients had early eruption of ipsilateral deciduous and permanent teeth (n = 12). Computed tomography and magnetic resonance imaging showed an infiltrated soft-tissue mass of fatty density (n = 13) and skeletal overgrowth (n = 9). Multiple resection was performed on six patients (mean number of operations per patient, 2.5; range, one to six operations); regrowth and/or worsening of the capillary stain occurred in all six patients. Because surgical removal of the mass is usually unsuccessful, specific management of this condition will require insight into its etiopathogenesis. Given the presence of mucosal neuromas and lipomatosis, this study included testing for the known mutations in three entities that are associated with these soft-tissue findings (Cowden syndrome, Bannayan-Riley-Ruvalcava syndrome, and multiple endocrine neoplasia type 2B). Results of DNA analyses for these germline mutations were negative. It is more likely that this disorder is caused by a somatic mutation involving a local increase in growth factor(s).     

Primary repair of bilateral cleft lip and nasal deformity.

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. List five principles that guide synchronous repair of bilateral complete cleft lip and nasal deformity. 2. Explain how different growth rates for the principal nasolabial features are applied during primary repair. 3. Describe two approaches for positioning the alar cartilages to form the columella. 4. Discuss the influences on referral patterns for a newborn with bilateral cleft lip. --Traditional repair of bilateral cleft lip focused on labial closure but accentuated the nasal deformities, which were addressed later. By the end of the past century, single-staged labial closure had replaced the old multistaged procedures and the technical emphasis had begun to shift from secondary to primary nasal correction. Now, presurgical maxillary orthopedics sets the bony foundation for synchronous nasolabial repair and for closure of the alveolar clefts. The study of normal nasolabial growth and the typical stigmata of the conventional methods provides the necessary foreknowledge to guide surgical sculpture in three dimensions and to anticipate the fourth dimension. The convergence of several forces are changing referral lines for children born with bilateral cleft lip. These include affirmation of centers of excellence, surgeons' self-regulation, prenatal diagnosis, economics of health-care delivery, and increasing parental sophistication. These pressures are not necessarily in conflict. Care by a subspecialized plastic surgeon and experienced team is in the best interests of the child and the third-party payer.     

Macroglossia: a review of the condition and a new classification

In studying macroglossia, no one has described normal tongue size or applied direct measurement to the pathologically enlarged tongue. Since macroglossia is primarily a condition that requires treatment on a symptomatic basis, definition of the problem in clinical terms is the most useful form for the practitioner. Based on published reports and our clinical experience, a classification scheme for macroglossia has been formulated. The concept of true macroglossia and relative macroglossia form a framework that categorizes acquired and congenital forms of tongue enlargement. True macroglossia exists when histologic abnormalities correlate with the clinical findings of tongue enlargement. Vascular malformations, muscular enlargement, and tumors are the most common forms of true macroglossia. Relative macroglossia includes those cases of apparent tongue enlargement in which the histology does not provide a pathologic explanation. Down's syndrome is a commonly quoted cause for tongue enlargement and is a form of relative macroglossia. The development of this classification system establishes an approach and common terminology on which therapy, research, and communication can be based.     

The use of scapular and parascapular flaps for cheek reconstruction.

This is a retrospective review of our experience with microvascular transfer of scapular and parascapular flaps for the correction of lateral facial contour deficiencies. Twenty-eight patients with congenital (n = 8) and acquired (n = 20) defects were treated with 30 flaps; two patients had bilateral flaps. The etiology of the defects included hemifacial microsomia (n = 2), oblique facial cleft (n = 1), Romberg's hemifacial atrophy (n = 5), neoplasm (n = 4), irradiation (n = 8), trauma (n = 4), tumor excision (n = 4), facial lipodystrophy (n = 2), and silicone granuloma (n = 2). The follow-up evaluation was from 2 to 13 years, with an average of 6 years. Fabrication of a facial moulage was part of the preoperative planning for each patient. These were compound flaps, including skin, deepithelialized skin, fat, fascia, and bone, if necessary. All flaps were constructed with an intact skin paddle for postoperative monitoring. Based on dissections and anatomic findings at operation, several variations in the level of emergence of the circumflex scapular artery from the triangular space and its branching patterns were noted. All flaps survived; changes in the patients' weights were reflected in the flaps. Twelve patients required secondary procedures: excision of skin monitor islands, scar revisions, debulking, or flap resuspension to the malar region. Bone grafts or alloplastic implants were necessary in four patients in whom the malar eminence could not be adequately corrected by transfer of a flap. The deepithelialized scapular/parascapular flap is preferred for correction of large lateral facial defects.     

Structure of the Pseudorabies Virus Capsid: Comparison with Herpes Simplex Virus Type 1 and Differential Binding of Essential Minor Proteins

The structure of pseudorabies virus (PRV) capsids isolated from the nucleus of infected cells and from PRV virions was determined by cryo-electron microscopy (cryo-EM) and compared to herpes simplex virus type 1 (HSV-1) capsids. PRV capsid structures closely resemble those of HSV-1, including distribution of the capsid vertex specific component (CVSC) of HSV-1, which is a heterodimer of the pUL17 and pUL25 proteins. Occupancy of CVSC on all PRV capsids is near 100%, compared to ~ 50% reported for HSV-1 C-capsids and 25% or less that we measure for HSV-1 A- and B-capsids. A PRV mutant lacking pUL25 does not produce C-capsids and lacks visible CVSC density in the cryo-EM-based reconstruction. A reconstruction of PRV capsids in which green fluorescent protein was fused within the N-terminus of pUL25 confirmed previous studies with a similar HSV-1 capsid mutant localizing pUL25 to the CVSC density region that is distal to the penton. However, comparison of the CVSC density in a 9-Å-resolution PRV C-capsid map with the available crystal structure of HSV-1 pUL25 failed to find a satisfactory fit, suggesting either a different fold for PRV pUL25 or a capsid-bound conformation for pUL25 that does not match the X-ray model determined from protein crystallized in solution. The PRV capsid imaged within virions closely resembles C-capsids with the addition of weak but significant density shrouding the pentons that we attribute to tegument proteins. Our results demonstrate significant structure conservation between the PRV and HSV capsids.