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PubMed2026

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.

IMPORTANCE: While FOXC1 single-nucleotide variants and deletions are well-established causes of Axenfeld-Rieger syndrome, few FOXC1 duplications have been reported. This study investigated families with duplications encompassing the FOXC1 gene to refine the associated phenotypic spectrum and contribution to glaucoma. OBJECTIVE: To investigate the prevalence and phenotype of FOXC1 duplications in 2 large glaucoma registries. DESIGN, SETTING, AND PARTICIPANTS: This retrospective observational genetic cohort study included participants recruited from the Australian & New Zealand Registry of Advanced Glaucoma (ANZRAG) and the Massachusetts Eye and Ear (MEE) cohort from 2008 through 2025. Participants with glaucoma, and available relatives, underwent genomic testing to identify duplications encompassing FOXC1 using exome sequencing and genotyping arrays (ANZRAG) or whole-genome sequencing (MEE). Data analyses were conducted from 2022 through 2025. MAIN OUTCOMES AND MEASURES: Prevalence of FOXC1 duplications, age at glaucoma onset, and phenotype, including ocular and systemic features. RESULTS: Twenty individuals from 10 families (50% female and 50% male; 70% self-described as broadly European [Australian/British, British, English/German, English/Polish, European, or Scottish], 25% as Asian [Chinese or Filipino], and 5% as Latin American [Salvadoran]) were identified with FOXC1 duplications. All genetically tested individuals were diagnosed with glaucoma, demonstrating high penetrance. Seventeen individuals were referred with juvenile open-angle glaucoma (JOAG), 1 with primary open-angle glaucoma, 1 with primary congenital glaucoma, and 1 with anterior segment dysgenesis. The diagnosis of 4 individuals from 1 family with ectropion uveae was revised to anterior segment dysgenesis. Systemic features were reported for 2 participants (10.5%), including subtle dental findings and mild facial dysmorphism. Duplications encompassing FOXC1 were among the most common monogenic contributors to JOAG. In the ANZRAG group, they accounted for 13.5% (95% CI, 6.7%-25.3%) of JOAG probands with a genetic diagnosis, second to MYOC (53.8%; 95% CI, 40.5%-66.7%). In the MEE group, FOXC1 duplications accounted for 9.5% (95% CI, 2.7%-28.9%) of JOAG probands with a genetic diagnosis. CONCLUSIONS AND RELEVANCE: These findings suggest FOXC1 duplications are an underrecognized, highly penetrant, but variably expressive, genetic variation associated with JOAG. Findings for the relatively modest number of individuals in the retrospective study were associated with wide confidence intervals. This limitation is often inherent to studies of JOAG, a rare condition for which individual genetic variants account for only a subset of cases. Despite this, the findings highlight the genetic heterogeneity of JOAG and support the potential importance of considering routine genetic copy-number variant analysis for individuals with JOAG.

Humans↗
PubMed1997

Pregnancy-related changes: a retrospective review of 278 cervical smears.

Pregnancy-related physiologic changes are well recognized. However, the normal range of changes as reflected in the cervical smear have not been adequately described. Review of 278 abnormal cervical smears from 153 pregnant/preabortal and 125 postpartum/ abortal patients revealed the following: 21 high-grade squamous intraepithelial lesion (HGSIL) cases, 46 low-grade squamous intraepithelial lesion (LGSIL) cases, 185 atypical squamous cells of undetermined significance (ASCUS) cases, and 26 atypical glandular cells of undetermined significance (AGUS) cases. Surgical correlation (excluding 18 products of conception and 153 placentas) was available in 98 (35%) of the cases. Dysplasia was confirmed on biopsy of 11 cases cytologically diagnosed as HGSIL (7 CINII/III and 4 CIN I), 19 cases cytologically diagnosed as LGSIL (6 CIN II/III and 13 CIN I), 35 cases of ASCUS (4 CIN II/III and 31 CIN I), and 2 cases of AGUS (1 CIN III and 1 CIN I). Decidualization was present in six cervical and three endometrial biopsies. The remaining 180 cases revealed pregnancy-related changes in most of the atypical groups and a few in the dysplasia groups. With pregnancy, both cervical glands and stroma undergo physiologic changes. These result in squamous metaplasia due to ectropion and cells with hypervacuolated cytoplasm and atypical nuclei reflecting endocervical gland hyperplasia and/or Arias-Stella reaction. The decidual cells are large, with variably staining cytoplasm and a large nucleus. Degenerated decidual or trophoblastic cells can also shed from the endometrium and mimic HGSIL. Despite the caution required in this population, dysplastic changes should not be underestimated.

Decidua↗
PubMed1998

Three-dimensional reconstruction of types IV and V midfacial defects by free rectus abdominis myocutaneous (RAM) flap.

Extensive midfacial defects after ablative surgery constitutes a challenging problem for reconstructive surgeons. Particularly for types IV and V midfacial defects, provision of missing bony support and obliteration of the maxillary cavity defects require microsurgical free tissue transfers. In the last three years, four patients have undergone total maxillectomy for midfacial tumours and the postmaxillectomy defects were three-dimensionally repaired with free rectus abdominis muscle flap and skin graft or myocutaneous flaps. Obliteration of maxillary cavity defects and orbital support were achieved with this type of free flap. The least follow-up period of the patients is one year and slight ectropion, later corrected, was seen in two patients. In this study, the free rectus abdominis myocutaneous (RAM) flap, with its long vascular pedicle and availability of various skin paddle designs and muscle bulk, is presented in treatment of extensive midfacial defects. In spite of initial overcorrection of contour, the denervated rectus abdominis muscle gradually atrophies, resulting in loss of contour. The muscle bulk fills the cavity defect, but, in order to achieve good facial contour, it is necessary to support the bony skeleton with some material.

Abdominal Muscles↗
PubMed2000

Autosomal recessive multiple pterygium syndrome: a new variant?

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Abnormalities, Multiple↗
PubMed1991

Vaginal adenosis and clear cell carcinoma after 5-fluorouracil treatment for condylomas.

Vaginal adenosis and clear cell adenocarcinoma of the vagina occurred in a 44-year-old woman after treatment for condylomata acuminata. She had no known exposure to diethylstilbestrol (DES) in utero. Biopsy-proven vaginal adenosis appeared 8 months after intravaginal 5-fluorouracil application for recurrent urogenital condylomata acuminata. Forty months later, biopsies showed residual adenosis with foci of clear cell adenocarcinoma. Although clear cell adenocarcinoma is associated with vaginal adenosis and cervical ectropion in DES-exposed women, its occurrence in adenosis after 5-fluorouracil therapy has not been reported to the authors' knowledge. In this report, this rare but serious complication of treatment of condylomata acuminata is highlighted, and the literature regarding the development of non-DES-associated vaginal adenosis is discussed.

Adenocarcinoma↗
PubMed1985

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

We present clinical findings in infants from three kindreds (two Hutterite and one Mennonite) with an apparently unique, fatal disorder. The major manifestations consist of severe intrauterine growth retardation, congenital contractures, and tense skin which is easily eroded. The skin is tightly drawn over the face, giving an abnormal appearance consisting of a narrow, pinched nose, small mouth, limited jaw mobility, and ectropion (in one). One infant had first-degree hypospadias. Apart from this, there were no organ malformations and the infants did not have hydrops. Histologically, the skin showed hyperkeratosis. It is postulated that this is a tissue dysplasia and that all of the clinical effects are secondary. The disorder appears to be an autosomal recessive trait. The two Hutterite families are from different endogamous subdivisions. They are related as fourth cousins once-removed and fifth cousins in multiple ways through the six nearest common ancestors of all four parents. There are 25 founders (11 couples and three individuals) who are common ancestors. We computed the probability of joint descent of the four alleles in each pair of parents and in a sample of Alberta Hutterite couples, assuming that each of the common founders in turn was the original carrier. For an allele from one particular founder couple, there is a relatively greater probability of identity by descent for each pair of parents than on the average for other couples of the same endogamous subdivision.

Abnormalities, Multiple↗
PubMed1986

Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.

A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome.

Abnormalities, Multiple↗
PubMed2004

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.

Abnormalities, Multiple↗
PubMed2006

Deep plane cervicofacial flap: a useful and versatile technique in head and neck surgery.

BACKGROUND: Large oncosurgical defects of the cheek present a challenging reconstructive problem, especially when skin resections are combined with other procedures such as parotidectomy and/or neck dissection. METHODS: We present our experience with the deep plane cervicofacial flap (DPCFF) for reconstructing zone 1 (n=7), zone 2 (n=6), and zone 3 (n=5) cheek defects resulting from excision of primary cutaneous malignancies (n=13) and metastatic parotid (n=6) and/or neck (n=4) disease with skin involvement. The patients were between 65 and 88 years of age (mean, 76.7 years). The design of the flap was determined by the location of the defect and the need for simultaneous parotidectomy and/or neck dissection. Sixteen flaps were anteriorly based, whereas two were posteriorly based. RESULTS: Twelve patients underwent simultaneous parotidectomy (n=11) and/or neck dissection (n=10) and/or facial reanimation procedures (n=6). The size of the cutaneous defects ranged from 4 x 4 to 10 x 10 (mean, 5.6 x 5.3) cm. Eight patients received postoperative adjuvant radiotherapy to the primary site and/or parotid bed and neck. Superficial marginal flap necrosis occurred in one of the three patients who received definitive radiotherapy before salvage surgery and repair with DPCFF. Other complications included one hematoma, one ectropion, and one retraction of the lower eyelid. Apart from mild facial contour deficiency in two patients, excellent functional and cosmetic outcome with good skin color and texture match were achieved in all patients. CONCLUSIONS: The DPCFF is a versatile reconstructive technique in head and neck surgery. It provides a simple solution for a variety of cheek defects as an excellent alternative to regional or free tissue transfer. It can be used when simultaneous parotidectomy and/or neck dissection and/or facial reanimation procedures are required. This composite musculo-fascio-cutaneous unit is reliable with excellent vascularity, because it has an axial blood supply. Division of the facial suspensory ligaments during elevation of the flap in the sub-superficial musculo-aponeurotic system (SMAS) plane increases the mobility of this flap, which facilitates transfer.

Aged↗
PubMed2006

Osteomyocutaneous peroneal artery perforator flap for reconstruction of composite maxillary defects.

BACKGROUND: Composite maxillary defects often involve the maxilla, nasal mucosa, palate, and maxillary sinus. We presented the surgical techniques and outcome of the osteomyocutaneous peroneal artery perforator (PAP) flap for reconstruction of composite maxillary defects. METHODS: Six patients underwent an osteomyocutaneous PAP flap reconstruction of composite maxillary defects. The average age was 52 years. The defects were Cordeiro type II in three patients and type IV midfacial defects in another three patients. RESULTS: No total or partial flap failures occurred. At a mean 12-month follow-up, five patients had a normal speech and were able to eat a regular diet. One patient tolerated a soft diet and had intelligible speech. One patient had ectropion develop. Excellent cosmesis was found in five patients. CONCLUSIONS: The osteomyocutaneous PAP flap represents a further refinement of the fibula flap and increases its versatility, with multiple skin paddles, bone segments, and soleus muscle independently isolated. It is a comparable reconstruction option for composite maxillary defects.

Adult↗
PubMed2002

Aesthetic and functional advantages of the anterolateral thigh flap in reconstruction of tumor-related scalp defects.

Eleven patients underwent free-flap reconstruction of tumor-related defects of the scalp, forehead, and temporal region. Flap selection aimed at achieving acceptable functional and aesthetic results combined with negligible donor-site morbidity. Ten males and one female, aged 61.3 +/- 14.3 years, were included in this study. Eight patients presented with tumor recurrences after previous surgery, irradiation, and/or chemotherapy. The average extension of defects was 169.5 (range, 30-600) qcm. Free flaps employed for reconstruction included antero-lateral thigh flaps (8), suprafascial radial forearm flap (1), lateral arm flap (1), latissimus dorsi muscle flap (1), and myocutaneous vertical rectus abdominis flap (1). Other procedures included nerve grafts to the facial nerve (2), ectropion correction (2), and fascia lata slings for static procedure in facial palsy (2). There was no pedicle revision and no flap failure. Donor-site morbidity was negligible. Hospitalization averaged 9.2 +/- 1.7 days. The anterolateral thigh perforator flap offers excellent coverage of tumor-related defects of the scalp, which require a thin flap for adequate contouring. The customized harvested myocutaneous anterolateral thigh flap is regarded as an elegant option for covering defects which consist of both deep and superficial areas. Fascia lata and nerve grafts are available at the same donor site. This easily allows additional procedures for cosmetic and functional improvement that are of high benefit for patients.

Adult↗
PubMed1995

Cryotherapy for eyelid and periocular basal cell carcinomas: outcome in 166 cases over an 8-year period.

BACKGROUND: Basal cell carcinoma (BCC) is the most common of all malignant tumours and often appears on the periocular skin. In the present study, patients with 166 eyelid and periocular BCCs were treated with cryotherapy at the Eye Clinic of the Kuopio University Hospital. Seven patients with a total of eight BCCs died during the first year after cryotherapy, of causes unrelated to BCC. These cases were excluded from the analysis of outcome. METHOD: The tumours were photographed before excisional biopsy and histopathological examination. The BCCs were frozen twice with liquid nitrogen in a closed cryoprobe; a tissue thermometer was used. RESULTS: During the mean follow-up of 5 years for 158 BCCs, recurrences were observed in 12 cases (7.6%). The most important prognostic factors for recurrence were large tumour size (maximum diameter exceeding 10 mm), tumour extension into the lid margin, and cicatrising (morpheaform) BCC. The complications of cryotherapy were slight, but in some cases lid ectropion needed surgical correction. The functional and cosmetic results were very satisfactory in most cases. CONCLUSION: Ninety-two percent of BBCs treated with cryotherapy did not recur during mean follow-up of 5.0 years (range 1.6-8.4 years).

Adult↗
PubMed1996

Gracilis muscle transposition in the treatment of faecal incontinence.

Between 1965 and 1994 eight selected patients with faecal incontinence for solid stool (Grade 4) were operated on by the original procedure described by Pickrell (1952), combined with biofeedback training postoperatively. No postoperative complication occurred. All patients were improved by this procedure. Five had normal continence and there were 3 incontinence for flatus. Anal manometry showed an increase in postoperative squeeze pressure (p < 0.05). Long term results (48.5 months) remained the same in five cases. One patient became incontinent following an anal dilatation at 108 months, and two required excision of mucosal ectropion at 7 and 78 months with restoration of continence. One patient died of unrelated disease at 31 months.

Adult↗
PubMed1992

The "no flap" technique for lower-lid blepharoplasty.

The transconjunctival approach to fat pad excision has gained popularity for use on those patients who require fat excision but not redundant skin excision. For skin excision cases, the pinch technique for raising the cuff of redundant skin of the lower lid has been found helpful, particularly in the older patient with latent senile ectropion. We find that elevating the skin or the skin/muscle flap produces edema of the already weak musculature predisposing it to postoperative senile lid hang. Avoiding lower-lid flaps in a lower-lid blepharoplasty has helped prevent this troublesome problem.

Eyelids↗
PubMed1989

Different technical approaches for blepharoplasty in eyelid rejuvenation surgery.

The authors have reviewed their clinical experiences with 92 cases of blepharoplasties treated during the past 10 years and discuss the principal approaches used, depending on the age of the patient, the amount of adipose tissue present, the degree of lower lid tarsal and muscle laxity present, and the quality of the skin excess encountered. On the upper eyelid, skin excision is combined with an orbicular muscle strip and in older patients a suspension of the lateral canthus. On the lower eyelid the transconjunctival approach is emphasized in young and or colored patients, using an undermined musculocutaneous flap in the classical technique. A good choice between these different approaches avoids the rare complications of ectropion and scleral show because the procedure used is considered to be a variable "geometric" operation.

Blepharoptosis↗
PubMed1994

Biomicroscopy and fluorescein angiography of pigmented iris tumors. A retrospective study on 44 cases.

The classification of pigmented iris tumors is a difficult clinical problem. Based on the retrospective observation of colour photographs and iris angiograms of 44 pigmented iris tumors observed over 19 years, the authors present an original grading scheme with scores depending on both the biomicroscopical and the fluoroiridographic patterns of the tumors. The biomicroscopical parameters considered were: thickening of the iris in the area of tumor, pupillary distortion and/or ectropion uveae and uneven pigment density. The fluoroiridographic parameters were: early visibility of the anomalous tumoral network, hyperfluorescence inside or around the tumor, and dye leakage at sites remote from the mass. Based on the score of each tumor, the 44 cases were divided into 3 groups with the different degrees of malignancy confirmed by either histological examination or by follow-up behaviour. The authors suggest that routine use of biomicroscopic-fluoroiridographic classification of pigmented iris tumors would be useful.

Female↗
PubMed1998

Cutaneous advancement flap closure: alternative method for treatment of complicated anal fistulas.

PURPOSE: A retrospective chart review of 20 consecutive patients with 23 anal fistulas treated with cutaneous advancement flap closure was undertaken to ascertain the efficacy of this previously unreported technique. METHODS: The so-called "diamond" and "house" flaps are commonly used to treat anal stenosis, and mucosal advancement flaps are successfully used to close fistulas. The authors began, in 1994, to close selected fistulas with skin advancement flaps after suture closure of the internal opening and adequate drainage of the external opening. Fourteen patients (4 females; average age, 42 years; a total of 14 fistulas) without inflammatory bowel disease and 6 patients (3 females; average age, 35 years) with inflammatory bowel disease (5 with Crohn's disease; 1 with chronic ulcerative colitis; a total of 8 fistulas) were treated. Indications were low internal opening with transsphincteric fistula in both groups. Mucosal advancement was relatively contraindicated, either because of fear of ectropion or, in the inflammatory bowel disease patients, diseased mucosa. No one in the noninflammatory bowel disease group was diverted or kept without anything by mouth, and all were treated as outpatients or with overnight observation. The inflammatory bowel disease group was either diverted (1 patient) or kept on home total parenteral nutrition (5 patients) for three to six weeks. Cyclosporine, antibiotics, 5-acetylsalicylic acid, and other medications were used judiciously in the inflammatory bowel disease group. RESULTS: In the noninflammatory bowel disease group, complete healing of all wounds occurred in 11 patients in an average of 6.5 weeks (average follow-up, 18 months). Complications included donor site separation in two patients and minor incontinence of flatus in one patient. In the inflammatory bowel disease group, five fistulas healed, two failed, and one patient developed a new fistula during an average follow-up of 16 months. Deep venous thrombosis and catheter sepsis occurred in one patient in this group. There were no fatalities in either group. CONCLUSIONS: Although the numbers, especially in the inflammatory bowel disease group, are very small, the results are encouraging. This technique appears to have a place in the armamentarium of the surgeon repairing anal fistulas.

Adult↗
PubMed1999

Use of endoanal ultrasound in patients with rectovaginal fistulas.

PURPOSE: The purpose of our study was to define the role of endoanal ultrasound in the evaluation and management of patients with rectovaginal fistula. METHODS: A retrospective review was performed of all patients with rectovaginal fistula who were evaluated by endoanal ultrasound at Barnes-Jewish Hospital at Washington University from 1992 to 1997. RESULTS: Twenty-five females underwent endoanal ultrasound before rectovaginal fistula repair. Mean age was 34 years. Rectovaginal fistulas were caused by obstetric trauma (19 patients; 76 percent), cryptoglandular disease (5 patients; 20 percent), and Crohn's disease (1 patient; 4 percent). Previous rectovaginal fistula repair had been performed in ten patients (40 percent). A history of anal incontinence was present in ten patients (40 percent). Rectovaginal fistula location was above (15 patients), at (7 patients), or below (3 patients) the dentate line. Rectovaginal fistula size was <5 mm (19 patients; 76 percent) or >5 mm (6 patients; 24 percent). Anal manometry revealed decreased sphincter pressures (resting or squeeze) in 12 patients (48 percent). Pudendal nerve latency was abnormal in three patients (9 percent). Endoanal ultrasound identified the rectovaginal fistula in 7 patients (28 percent) and an anterior sphincter defect in 23 patients (92 percent). At surgery sphincter injuries were identified in 23 patients (92 percent). Treatment was either sliding flap repair with anal sphincter reconstruction (22 patients; 88 percent) or sliding flap repair alone (3 patients; 12 percent). Repair of the rectovaginal fistula was successful in 23 patients (92 percent). Complications occurred in 11 patients (44 percent): two recurrent rectovaginal fistulas, five infections, two skin separations, one ectropion, and one hematoma. The two patients with recurrent rectovaginal fistula had prior repairs, and both were subsequently repaired successfully. Of the 11 patients with preoperative anal incontinence, 6 patients (54 percent) were continent and 2 (18 percent) improved after surgery. Cause, size, location, and previous repair of fistula had no effect on final outcome. CONCLUSIONS: Noncontrast endoanal ultrasound was not useful in imaging rectovaginal fistulas and cannot be recommended as a diagnostic or screening tool for the identification of a rectovaginal fistula. However, we recommend that endoanal ultrasound be performed preoperatively in all patients with known rectovaginal fistulas to identify and map occult sphincter defects. Concomitant anal sphincter reconstruction should be considered strongly in patients with rectovaginal fistula and an endoanal ultrasound-documented sphincter defect.

Adult↗