Juvenile gigantomastia: presentation of four cases and review of the literature.

Juvenile gigantomastia is a benign disorder of the breast in which one or both of the breasts undergo a massive increase in size during adolescence. The authors present a series of four cases of juvenile gigantomastia, advances in endocrine management, and the results of surgical therapy. Three patients were treated for initial management of juvenile gigantomastia and one patient was evaluated for a gestationally induced recurrence of juvenile gigantomastia. The three women who presented for initial management had a complete evaluation to rule out other etiologies of breast enlargement. Endocrine therapy was used in 2 patients, one successfully. A 17-year-old girl had unilateral hypertrophy treated with reduction surgery. She had no recurrence and did not require additional surgery. Two patients, ages 10 and 12 years, were treated at a young age with reduction mammaplasty, and both of these girls required secondary surgery for treatment. One patient underwent subtotal mastectomy with implant reconstruction but required two subsequent operations for removal of recurrent hypertrophic breast tissue. The second patient started a course of tamoxifen followed by reduction surgery. While on tamoxifen, the second postoperative result remained stable, and the contralateral breast, which had exhibited some minor hypertrophy, regressed in size. The fourth patient was a gravid 24-year-old who had been treated for juvenile gigantomastia at age 14, and presented with gestationally induced recurrent hypertrophy. The authors' experience has been that juvenile gigantomastia in young patients is prone to recurrence, and is in agreement with previous studies that subcutaneous mastectomy provides definitive treatment. However, tamoxifen may be a useful adjunct and may allow stable results when combined with reduction mammaplasty. If successful, the use of tamoxifen would eliminate the potential complications of breast prostheses. Lastly, the 17-year-old patient did not require secondary surgery, suggesting that older patients may be treated definitively with reduction surgery alone.

Palatal length in cleft palate as a predictor of speech outcome.

In an attempt to predict which patients might benefit from primary posterior pharyngeal flaps done at the time of palatal repair, palatal length was assessed before palatal repair and the patient was placed in one of four categories. Patients with longer palates preoperatively had statistically better speech outcomes than patients with shorter palates. Statistical significance was found for most speech parameters. Information on presurgical palatal length can be useful in predicting which patients might profit from primary "pharyngoplasties."

Communication disorders in the 22Q11.2 microdeletion syndrome.

The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization. Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.

The state of the art in cleft palate surgery.

This update focuses on current practices and controversies in surgical repair of the hard and soft palate posterior to the alveolus. Our current understanding of the advantages and disadvantages of presurgical active and passive manipulation of the hard palate shelves including the use of periosteoplasty is reviewed. The evolution of the multiple methods of repair of the hard and soft palate is given in a historical context along with a discussion of the concerns about timing of palate repair.

Cleft palate repair at 3 to 7 months of age.

We report the speech outcome in 90 children with complete unilateral cleft lip and palate who underwent soft palate repair either between 3 and 7 months of age (n = 40) or later than 7 months of age (n = 50). In all patients, palatoplasty was performed by one of two experienced surgeons using a modification of the Furlow technique, and speech evaluations were conducted using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence by two speech pathologists with high inter-rater reliability. There were no differences between the groups with respect to resonance, nasal air emission, and articulation. Velopharyngeal function, as measured by the total speech score, was similar between the two groups of patients, as were the rates of secondary pharyngoplasty. These results suggest that very early closure of the soft palate may not offer significant benefit over repair later in infancy with respect to speech outcome.

Cleft lip and palate.

The most common congenital deformity of the head and neck, cleft lip and palate, presents the surgeon with a unique esthetic and reconstructive challenge. The complexity of these deformities demands the skills of a multidisciplinary team of professionals to optimize surgical outcome. This article discusses the embryology, epidemiology, and genetics of cleft lip and palate and details the history and modern methods of their surgical correction, the proper goal of which is restoration of normal facial form and velopharyngeal function.

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents the neurodevelopmental outcome, including cognitive development, language development, speech, neuromuscular development, and behavioral characteristics of 40 preschool children (ages 13 to 63 months) who have been diagnosed with the 22q11.2 deletion. The impact of cardiac disease, cardiac surgery, and the palatal anomalies on this population was also studied. In the preschool years, children with a 22q11.2 deletion are most commonly found to be developmentally delayed, have mild hypotonia, and language and speech delays. The more significantly delayed children are at high risk to be subsequently diagnosed with mild or moderate mental retardation. The global delays and the variations in intelligence found are directly associated with the 22q11.2 deletion and are not explained by physical anomalies such as palatal defects or cardiac defects, or therapeutic interventions such as cardiac surgery. Our findings demonstrate that there is a pattern of significant speech disorders within this population. All of the children had late onset of verbal speech. Behavioral outcomes included both inhibition and attention disorders. Early intervention services are strongly recommended beginning in infancy to address the delays in gross motor skills, speech and language, and global developmental delays.

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

A retrospective study of changes in physical symptoms and body image after reduction mammaplasty.

Reduction mammaplasty is performed typically to alleviate the painful physical symptoms of macromastia. Women who suffer from macromastia also frequently present to the plastic surgeon with heightened body image dissatisfaction and maladaptive behavioral changes in response to their breast size. Numerous investigations have demonstrated improvement in physical symptoms after breast reduction surgery. Studies have also suggested that psychological improvement occurs postoperatively; however, they have not used well-validated, standardized psychological measures. The present study is a retrospective analysis of the physical and psychological status of women who underwent reduction mammaplasty. One hundred ten patients who underwent a reduction mammaplasty between 1982 and 1996 were mailed a packet of questionnaires designed to assess current physical symptoms and body image. Sixty-one of the 110 patients (55 percent) responded. The vast majority reported substantial improvement or elimination of neck, back, shoulder, and breast pain, grooving from bra straps, poor posture, skin irritation, and social embarrassment. In addition, they reported significantly less dissatisfaction with their breasts as compared with a sample of breast reduction patients assessed preoperatively. Symptom relief and improved body image occurred independently of preoperative body weight, as we found few significant differences between obese and non-obese women concerning the resolution of physical symptoms or improvement in body image. Results provide further evidence of the efficacy of reduction mammaplasty not only for relief of physical symptoms but also for alleviation of body image dissatisfaction.

Cleft-palate repair by modified Furlow double-opposing Z-plasty: the Children's Hospital of Philadelphia experience.

Although the optimal technique of cleft-palate repair remains controversial, several small series have suggested that superior speech results may be obtained with the Furlow double-opposing Z-plasty. To examine speech outcome in a large series of Furlow palatoplasties performed at a single center, we retrospectively reviewed the records of 390 cleft-palate patients who underwent Furlow palatoplasty at The Children's Hospital of Philadelphia from 1979 to 1992. Speech outcome at 5 years of age or greater was available for 181 nonsyndromic patients and was scored using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence. No or mild hypernasality was noted in 93.4 percent of patients, with 88.4 percent demonstrating no or inaudible nasal escape and 97.2 percent demonstrating no errors in articulation associated with velopharyngeal incompetence. Secondary pharyngeal flap surgery was required in just 7.2 percent of patients. Age at palatoplasty, cleft type, and experience of the operating surgeon had no significant effect on speech results, although there was a trend toward better outcome in those undergoing palatal repair before 6 months of age and toward poorer outcome in those with Veau class I and II clefts. Overall, Furlow palatoplasty yielded outstanding speech results, with rates of velopharyngeal dysfunction that seem to improve upon those reported for other techniques.

Bigger is not always better: body image dissatisfaction in breast reduction and breast augmentation patients.

This study investigated body image dissatisfaction in breast reduction and breast augmentation patients. Thirty breast reduction and 30 breast augmentation patients completed two body image measures preoperatively. Breast reduction patients reported greater dissatisfaction with their overall body image as compared with breast augmentation patients, part of which can be understood as a function of their increased body weight. When asked specifically about their breasts, reduction patients displayed increased body image dysphoria and maladaptive behavioral change, including embarrassment about their breasts in public areas and social settings and avoidance of physical activity. Results are discussed in the context of ideal body weight cutoffs by third-party payers for reimbursement for breast reduction. Recommendations for reimbursement criteria that de-emphasize the role of body weight are made.

The top hat flap: for one stage reconstruction of a prominent nipple.

Nipple reconstruction is an important adjunctive procedure in breast reconstruction. Local flap procedures and tattoo-only techniques rarely provide sufficient projection in a patient with prominent nipples. We describe a method to reconstruct such a nipple termed the top hat flap. A retrospective chart review of 38 patients was performed to determine adequacy of projection and complication rates of 46 nipples created between 1989 and 1994. Forty-three (93%) of the nipples resulted in adequate and sustained projection at a minimum of 1-year follow-up. The complication rate was found to be low and patient satisfaction high with this simple outpatient procedure.

Periauricular cysts and sinuses.

Periauricular cysts, sinuses, and fistulas occur commonly in the pediatric population. They arise from developmental defects of the first branchial cleft and first branchial arch. In most instances the diagnosis and management of these conditions are straightforward, but exceptional presentations sometimes occur. Failure to recognize these unusual cases may result in inadequate treatment and subsequent recurrence, and even if the correct diagnosis is made, surgical management of these lesions may be complicated. A series of 15 cases of periauricular congenital lesions is reviewed, of which three cases illustrating a diagnostic or surgical challenge are presented. The embryology, presentation, and management of these anomalies are discussed. This is one of the largest series of first branchial cleft anomalies reported in the literature, and our paper uniquely discusses first branchial cleft anomalies and preauricular sinuses together, with an emphasis on the surgical management of facial nerve, external ear, and middle ear involvement.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

OBJECTIVE: Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for having unrecognized palatal abnormalities. Therefore, we proposed to evaluate a cohort of patients with conotruncal cardiac malformations associated with a 22q11.2 deletion to determine the frequency of palatal abnormalities. METHODS: We identified 14 deletion-positive patients with congenital cardiac defects who had no overt cleft palate. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patients with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thymus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and speech pathologist looking for more subtle palatal anomalies such as a submucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on their degree of symptoms and age. VPI was not ruled out until objective evaluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample. RESULTS: Of the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patients were older than 5 years and had remained unrecognized until this study. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in adequate speech evaluations. Two of these patients, however, had histories of nasal regurgitation suggesting VPI and, in addition, had incomplete closure of the velopharyngeal mechanism during crying and swallowing observed during nasendoscopic examination-consistent with the diagnosis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by history and examination. The remaining 6 patients will require further study when they are older before a definitive palatal diagnosis can be made. CONCLUSIONS: A significant number of patients with a 22q11.2 deletion in a cardiac clinic may have unrecognized palatal problems. Recognition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and/or surgical intervention. Notably, two of our patients with findings suggesting VPI were infants and will, therefore, be afforded the opportunity for close follow-up and early intervention. Furthermore, three school-aged children had palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal cardiac malformations, followed by extensive palatal and speech evaluations when a deletion is present.

Superficial nasalis aponeurotic system (SNAS) flap reconstruction of nasal defects.

Reconstruction of full-thickness tissue loss of the nose, particularly in the nasal tip and supratip areas, remains a technical and aesthetic challenge. Exposure of the alar cartilage can complicate an already difficult reconstruction. Many method of reconstruction have been described. We offer an alternative to previously described techniques, utilizing the nasalis aponeurosis to provide alar coverage and bulk, in conjunction with full-thickness skin grafting to minimize contour deformity. The authors describe the technique and anatomy based on cadaveric dissection and its use in 4 patients. We have performed the superficial nasalis aponeurotic system (SNAS) flap on 4 patients with satisfactory aesthetic results. Use of the SNAS for coverage obviates the need for resection of a dog-ear, as may be the case with cutaneous or musculocutaneous flaps. Alar contour deformity is minimal. The SNAS flap is a useful technique to provide soft-tissue coverage of full-thickness soft tissue loss of the nose.

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.

Long-term follow-up of ocular findings in children with Stickler's syndrome.

PURPOSE: To document the longitudinal changes in eye status of children diagnosed with Stickler's syndrome in the first decade of life. METHOD: All patients with cleft palate were referred for eye examination. Of these, patients with systemic findings of Stickler's syndrome were included in this report. RESULTS: Thirty-four eyes in 17 patients met inclusion criteria, with median best-corrected recognition acuity of 20/30. The mean cycloplegic refraction at presentation was -5.00 diopters, and the mean refraction at last visit was -5.50 diopters. CONCLUSIONS: Refractive errors, cataracts, and vitreoretinal abnormalities can be detected early in life in patients with Stickler's syndrome, and refractive error changed little during the follow-up period.

Speech characteristics associated with the Furlow palatoplasty as compared with other surgical techniques.

Reported here are the results of a retrospective study of the speech outcome for 63 cleft subjects who had Furlow repairs compared with 20 subjects who had other procedures. The two groups of children were similar in cleft type, sex, and race. The same two surgeons repaired the palates in both groups, and the same two speech pathologists with high reliability examined the children at least 5 years postoperatively using the Pittsburgh Weighted Values for Speech Symptoms Associated with VPI (velopharyngeal incompetence). Subjects who had had Furlow repairs were superior on measures of hypernasality, articulation, and total speech scores; and fewer pharyngeal flaps were required by Furlow subjects. These findings suggest the need for randomized, double-blind investigations comparing outcome of the Furlow procedure with the intravelar veloplasty, the V-Y pushback, and other specified procedures.