Major Craniofacial Anomalies Research Articles

Congenital craniofacial anomalies

Congenital abnormalities of the cranium and face present complex diagnostic and therapeutic challenges to the ophthalmologist. Patients with craniofacial anomalies are best treated by a multidisciplinary team that includes specialists from plastic surgery, neurosurgery, ophthalmology, otolaryngology, oromaxillofacial surgery, orthodontics, anesthesia, and genetics as well as specialists in support disciplines such as nursing, social work, and nutrition. Other subspecialty needs may be important to address behavioral and developmental issues as well as associated systemic anomalies and medical conditions. The specialists must work together to provide for the overall well being of the patient. To assist in the evaluation and treatment of these patients, the ophthalmologist must possess an understanding of craniofacial syndromes as well as the necessary medical and surgical interventions required to improve ocular and adnexal problems. This article systematically reviews the major craniofacial anomalies of ophthalmic importance and highlights salient treatment issues.

Long-term follow-up and mechanisms of Obstructive Sleep Apnea (OSA) and related syndromes through infancy and childhood

Background: Although tonsil and adenoid (T&A) enlargement in children is a leading cause of it, Obstructive Sleep Apnea (OSA) may occur at any age. But even after T&A surgery, some children experience recurrent apneic episodes. The reasons for possible recurrence are unclear. Objective: To quantify the prevalence of recurrent OSA after T&A surgery and find out a common cause of OSA in children from the neonatal period to adulthood. Method: A retrospective report of apneic patients followed in a tertiary-care center is presented. Telephone interviews of parents were performed 3 years after T&A surgery. The questionnaire included night and day symptoms related to sleep-disordered breathing (SDB). A literature review was performed about associated causes of upper airway stenosis. Results: Out of 59 children who were included to follow up, 5 (8.5%) experienced residual or recurrent symptoms of SDB. The literature suggests the role of skeletal abnormalities in this process through nasal or pharyngeal stenosis. Major craniofacial anomalies are a well-known cause of obstruction. Thickened soft tissue has to be ruled out. Minor stenoses or neuromuscular disorders are less often diagnosed although they seem to be involved as well. Conclusion: A longitudinal follow-up of apneic children is able to reveal recurrence of SDB after adenotonsillectomy and often allows the understanding of mechanisms of upstream-induced recurrent pharyngeal obstructions.

Long-term follow-up and mechanisms of Obstructive Sleep Apnea and related syndromes through infancy and childhood

Background: Although tonsil and adenoid (T&A) enlargement in children is a leading cause of it, OSA may occur at any age. However, even after T&A surgery, some children experience recurrent apneic episodes. The reasons for possible recurrence are unclear. Objective: To quantify the prevalence of recurrent OSA after T&A surgery and find out a common cause of OSA in children from the neonatal period to adulthood. Method: A retrospective report of apneic patients followed in a tertiary-care center is presented. Telephone interviews of parents were performed 3 years after T&A surgery. The questionnaire included night and day symptoms related to sleep-disordered breathing (SDB). A literature review was performed about associated causes of upper airway stenosis. Results: Out of 59 children who were included to follow up, 5 (8.5%) experienced residual or recurrent symptoms of SDB. The literature suggests the role of skeletal abnormalities in this process through nasal or pharyngeal stenosis. Major craniofacial anomalies are a well-known cause of obstruction. Thickened soft tissue has to be ruled out. Minor stenoses or neuromuscular disorders are less often diagnosed although they seem to be involved as well. Conclusion: A longitudinal follow-up of apneic children is able to reveal recurrence of SDB after adenotonsillectomy and often allows the understanding of mechanisms of upstream-induced recurrent pharyngeal obstructions.

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?

The scimitar vein "syndrome" is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to nonconsanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins, and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though five familial cases of scimitar "syndrome" have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein "syndrome" is not a "syndrome" per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component.

Anaesthetic approach in a case of Goldenhar's syndrome

Anaesthetic approach in a case of Goldenhar's syndrome

Unmasking schizophrenia

Most schizophrenia researchers agree that multiple genetic and environmental factors contribute to this enigmatic disorder, but the exact nature of their interaction is much less clear. However, recent work by Deutsch et al.1. Deutsch C.K et al. Skewing of the brain midline in schizophrenia. NeuroReport. 2000; 11: 3985-3988 Crossref PubMed Scopus (21) Google Scholar on craniofacial dysmorphology (physical anomalies of the head and face) promises to uncover some of the embryological antecedents in schizophrenia by extrapolation from more established developmental trajectories. Although schizophrenia patients do not exhibit major craniofacial anomalies of the head and face, as do individuals with disorders such as Down Syndrome, minor physical anomalies of the head and face are over-represented in schizophrenia. In particular, recent studies have suggested that schizophrenia patients exhibit a greater number of minor physical anomalies than do non-schizophrenic individuals at the juncture of two craniofacial regions: the frontonasal prominence (e.g. forehead, orbital structure, and nose) and the maxillary prominence (e.g. cheek area and the upper jaw). ‘Fate-maps’, which detail how specific embryological regions mature into adult forms, reveal that this frontonasal–maxillary junction corresponds neuroanatomically to the diencephalic and mesencephalic border of the developing embryo. Because the adult brain and face derive from this common embryological primordium, Deutsch et al.1. Deutsch C.K et al. Skewing of the brain midline in schizophrenia. NeuroReport. 2000; 11: 3985-3988 Crossref PubMed Scopus (21) Google Scholar hypothesized that pathological processes in schizophrenia that produce craniofacial dysmorphology at the frontonasal–maxillary junction should also produce brain dysmorphology at the diencephalic and mesencephalic border. This, in turn, should result in midline anomalies in the mature brain.

Airway management in children with major craniofacial anomalies: Sculerati N, Gottlieb MD, Zimbler MS. Laryngoscope 108:1806, 1998

Airway management in children with major craniofacial anomalies: Sculerati N, Gottlieb MD, Zimbler MS. Laryngoscope 108:1806, 1998

Airway management in children with major craniofacial anomalies.

Delineation of clinical characteristics affecting the airway in a cohort of craniofacially deformed children. What factors differ between patients requiring and those not requiring surgical airway intervention? What factors predispose to the need for tracheotomy? When can decannulation be expected if tracheotomy is required? What interventions aid decannulation? Five-year retrospective chart review at tertiary center. Two hundred fifty-one patients met the following entry criteria: enrollment in the New York University Institute of Reconstructive and Plastic Surgery's Craniofacial Clinic and admission to Tisch Hospital in Manhattan for surgery from 1990 to 1994. Hospital, clinic, and departmental office records were reviewed. All patients had major craniofacial bony anomalies and underwent administration of general anesthesia at least once. Nearly 20% of all children required tracheotomy (47/251). Craniofacial synostosis patients (Crouzon, Pfeiffer, or Apert syndrome) had the highest rate of tracheotomy (48% [28/59]). Mandibulofacial dysostoses patients (Treacher Collins or Nager syndrome) had the next highest rate (41% [28/59]). Patients with oculo-auriculo-vertebral sequence were less likely to undergo tracheotomy (22% [9/41]). Children with craniosynostosis rarely required a surgical airway, unless there was marked associated facial dysmorphism (1% [1/72]). The duration of cannulation was related to the age at tracheotomy in a bimodal distribution. Generally, tracheotomies required before age 4 years remained for several years, whereas those placed after age 4 were removed after several weeks. The presence of a cleft palate correlated with reduced risk for tracheotomy, but the presence of a ventriculoperitoneal shunt correlated with an increased risk for tracheotomy. Procedures selectively used to improve the airway included midface advancement, mandibular expansion, tonsillectomy and adenoidectomy, uvulopalatopharyngoplasty, anterior tongue reduction, and endoscopic tracheal granuloma excision. The likelihood for surgical airway management is related to specific craniofacial diagnosis. The length of tracheal cannulation is greatest for infants and young children who manifest severe airway compromise, often because of nasal obstruction in combination with other anatomic factors. Early tracheotomy is advocated for these patients to promote optimal growth and development. Choanal atresia is often misdiagnosed in these infants; nasal obstruction is actually secondary to midface retrusion. Staged surgical interventions can allow eventual successful decannulation in nearly all cases of craniofacial syndromes.

Experiencing Clinical Ethical Dilemmas: Cases of Ethical Decision-Making in the Care of Children with Major Craniofacial Deformities

Abstract This series of six papers considers ethical and health policy issues related to the care of children born with major craniofacial anomalies, using a real-life case-based approach. The papers are based upon the direct experiences of pediatricians, craniofacial surgeons, social workers, parents, and ethicists. Using a simple theoretic framework presented in the paper by Sharp, the authors “unpack” their cases and discuss the ethical, clinical, and social issues raised, considering policy implications.

Experiencing Clinical Ethical Dilemmas: Cases of Ethical Decision-Making in the Care of Children with Major Craniofacial Deformities

This series of six papers considers ethical and health policy issues related to the care of children born with major craniofacial anomalies, using a real-life case-based approach. The papers are based upon the direct experiences of pediatricians, craniofacial surgeons, social workers, parents, and ethicists. Using a simple theoretic framework presented In the paper by Sharp, the authors “unpack” their cases and discuss the ethical, clinical, and social issues raised, considering policy implications.

Management of major craniofacial anomalies: a pediatric perspective.

Ethical decision-making regarding complex congenital anomalies has evolved along with improvements in neonatal medical and surgical care, but also reflects a changed medical and social environment. The current process is complex and cumbersome, with no guarantee of consensus, and frequently leads to indecision and disagreement. Improvement of the process will require continued professional education, as well as better reconciliation of areas of ambivalence among professionals, families, and society.

Management of Major Craniofacial Anomalies: A Pediatric Perspective

Ethical decision-making regarding complex congenital anomalies has evolved along with improvements in neonatal medical and surgical care, but also reflects a changed medical and social environment. The current process is complex and cumbersome, with no guarantee of consensus, and frequently leads to indecision and disagreement. Improvement of the process will require continued professional education, as well as better reconciliation of areas of ambivalence among professionals, families, and society.

Cutaneous Findings in Craniofacial Malformation Syndromes

A number of craniofacial malformation syndromes are characterized by prominent abnormalities of the skin, hair, nails, and mucous membranes. Many of these findings have been discussed little or not at all in the dermatologic literature. The goal of this review is to present some of the more prominent and distinctive syndromes to increase their recognition by dermatologists and to stimulate further investigation. The literature regarding syndromes in which major craniofacial anomalies, eg, craniosynostosis or clefting, were present was reviewed and those syndromes with prominent mucocutaneous findings were identified. Although some are well described in the literature, the findings in others are insufficiently detailed from a dermatologic point of view. Little has been written regarding therapeutic intervention. More accurate descriptions of many craniofacial malformation syndromes are needed by dermatologists. Alerting the dermatologic community to their existence should stimulate attempts at therapeutic intervention on behalf of affected persons.

Effects of (R)‐deoxycoformycin (pentostatin) on intrauterine nucleoside catabolism and embryo viability in the pregnant mouse

The viability of early mouse embryos is acutely sensitive to (R)-deoxycoformycin (pentostatin), a tight-binding inhibitor of adenosine deaminase (ADA). Previous studies have shown that a single 5-mg/kg dose on day 7 (plug = day 0) of gestation fully inhibits uteroplacental ADA activity within 0.5 h; causes massive cell death in the neural plate and primary mesenchyme by 6 h, major craniofacial anomalies by day 10, and resorption by day 12 (Knudsen et al., '89; Airhart et al., '91). The present study has examined further the developmental toxicity and early effects of this inhibitor on ADA metabolism. (R)-Deoxycoformycin was administered to pregnant CD-1 (ICR) mice as a single intraperitoneal dose of 0.5-10 mg/kg total body weight on days 6-11 of gestation. The major adverse effect, early resorption, was dose dependent and specific to day 7-8 exposure. Treatment with 5 mg/kg on day 7 resulted in 85% resorptions, 15% malformations, and a 24% reduction in mean fetal weight, whereas the same dose of (S)-deoxycoformycin had no effect. Levels of adenosine and 2'-deoxyadenosine, which are the endogenous substrates of ADA, were monitored in the embryo/decidual unit (E/D) by reversed-phase high-performance liquid chromatography (RP-HPLC). In response to the inhibitor, both nucleosides increased transiently in the antimesometrial compartment (antimesometrial decidua + embryo). Peak levels (Cmax) of adenosine and 2'-deoxyadenosine were dose dependent over the range tested (0.05-10 mg/kg). Exposure to 5 mg/kg on day 7 raised adenosine levels within 0.5 h to 42-fold over the basal level of 0.06 nmol/mg protein. There was an even stronger effect on 2'-deoxyadenosine levels, which were elevated 674-fold over the detection limit of 0.0005 nmol/mg protein. Direct exposure to the inhibitor in serum-free E/D culture produced similar results: 50 microM (R)-deoxycoformycin within 1 h raised adenosine levels 26-fold and 2'-deoxyadenosine levels 410-fold. In vivo studies also showed a general correlation between embryolethality and the length of adenine nucleoside pool expansion, apparent for exposure on day 7, 8, or 9 but not on day 6, suggesting that the embryo becomes sensitive to adenosine or 2'-deoxyadenosine once the neural plate has formed.

Midface retrusion.

Experience with 162 patients for whom a midface advancement was performed over the last 10 years is reported. The series includes cases of primary maxillary hypoplasia, post-cleft deformities, and major craniofacial anomalies. The indications and techniques applicable to each particular deformity are discussed and final results are analyzed. The overall facial esthetic concept is emphasized to ensure achievement of not only a good functional result, but also a pleasant appearance.

Congenital Absence of the Superior Rectus Muscle: A Case Report

We report a case of bilaterally absent superior rectus muscles presenting clinically as a double elevator palsy. This patient is unique due to paradoxical ocular movements on attempted upgaze and the absence of other major craniofacial anomalies. Successful surgical correction was accomplished using a modified Jensen procedure where the superior halves of the horizontal rectus muscles were united using synthetic absorbable sutures. Congenital absence of the superior rectus muscles should be suspected in patients with severe elevation deficiency associated with paradoxical ocular movements.