A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. [ncbi.nlm.nih.gov]

The purpose of this communication is (1) to present the relevant data of the largest series of cases in India studied at Dr. R.P. [ijo.in]

Syndactyly of the fingers is sometimes present as well. Clefting of the soft and hard palates is commonly present and a few patients have had joint contractures. Hearing loss of all types has been reported. Mental development seems to be normal. [disorders.eyes.arizona.edu]

• Low Set Ears

  INTRODUCTION Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital malformation of the eyelids, and may be associated with such extraocular features as microcephaly, mental retardation, low-set ears, joint contracture, cardiac defects [healio.com]

  People with BPES may also have distinctive facial features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum). [ghr.nlm.nih.gov]

  Persons affected with BPES may also have characteristic facial features such as a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip. [oculoplastic-eyelid-orbit-surgery.com]

  Other minor facial features frequently observed in both types include “lazy” eye (amblyopia), crossed eyes (strabismus), low-set ears, a short distance between the upper lip and nose, and a broad nasal bridge. [rarediseases.org]

  Minor features include a broad nasal bridge, low-set ears, and a short philtrum. [ncbi.nlm.nih.gov]

• Lop Ears

  The nasal bridge is flat and there is a hypoplastic orbital rim.[1] It may also be associated with lop ears, ectropion and hypertelorism. There are two known types, type 1 and type 2. [en.wikipedia.org]

  Ectropion Strabismus High arched brows Lop ears Two types: Type 1 : associated with primary ovarian failure. Type 2: no systemic association. [eyewiki.aao.org]

  High arched palate and lop ear deformity was seen in 2 cases. The ptosis was of quite severe degree in most of the cases and the L.P.S. action was poor. [ijo.in]

• Narrow Forehead

  Additional dysmorphic features include microcephaly, high, narrow forehead, short stubby fingers, and adduction of the right first toe. Cytogenetic analysis showed an unbalanced karyotype consisting of 46,XX,add(7)(q+) that was de novo in origin. [ncbi.nlm.nih.gov]

• Narrow Nose

  This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and [ncbi.nlm.nih.gov]

• Oligomenorrhea

  In BPES type I, menarche is usually normal, followed by oligomenorrhea and secondary amenorrhea. [ncbi.nlm.nih.gov]

  While they began menstruating at approximately 14 years old, they each had an irregular menarche cycle, experiencing oligomenorrhea and then amenorrhoea before 38 years of age. [ijbs.com]

• Vaginal Dryness

  In addition to decreased fertility, this also causes other symptoms associated with hypoestrogenism including but not limited to hot flashes, decreased libido, vaginal dryness, and reduced bone density. [eyewiki.aao.org]

• Nasal Speech

  […] tip, pear-shaped nose Nasal speech Cardiac septal defects, seizures, cryptorchidism Friendly disposition 610443 Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with blepharophimosis [ncbi.nlm.nih.gov]

A thorough workup revealed the presence of well-formed striated muscle in the most apical part of the levator muscle. [jamanetwork.com]

Treatment Treatment Options: No effective treatment has been reported. [disorders.eyes.arizona.edu]

Figure 2: The treatment response of alopecia areata -view of the vertex; (a) before starting treatment; (b) after 4 weeks of starting treatment; (c) 18 weeks Click here to view Figure 3: Treatment response: Frontal view (a) after 4 weeks of treatment, [ijtrichology.com]

Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome.[1] Treatment[edit] The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of 2015. [en.wikipedia.org]

Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility. [ncbi.nlm.nih.gov]

Blepharophimosis Treatment Treatment of this condition involves the work of a team of specialists which includes a pediatric ophthalmologist, geneticist, endocrinologist, oculoplastic surgeon and gynaecologist. [hxbenefit.com]

Prognosis Good surgical results have been published, with the possibilities of having more than one surgery. American Academy of Ophthalmology. [eyewiki.aao.org]

In the present study, we identified prognosis related specific lncRNAs, miRNAs and mRNAs of CN-AML from TCGA database. [cancerci.biomedcentral.com]

[…] good prognosis in LUSC ( F ). [oncotarget.com]

Virginia Facial anomalies / Craniofacial conditions Children's Craniofacial Association World Craniofacial Foundation Craniofacial Anomalies Page, Pediatric Neurology Department, Columbia-Presbyterian Hospital, NY, includes pictorial guide to anatomy and etiology [kumc.edu]

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. [ncbi.nlm.nih.gov]

Publié le 1 avr. 2015 Blepharophimosis, Etiologies, types, signs and symptoms, differential diagnosis, management and optometry roles Blepharophimosis 1. [fr.slideshare.net]

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (6), pp.1670-1681. ⟨10.1093/hmg/ddu579⟩. ⟨hal-02135859⟩ [hal.archives-ouvertes.fr]

Etiology Inherited as autosomal dominant with up-to 50% happened sporadically Pathophysiology BPES types I and II were each mapped on the long arm of chromosome 3, due to mutations within, or influencing FOXL2 gene, Its protein product expressed in lids [eyewiki.aao.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Symptomatic treatment is surgical.[1] Epidemiology[edit] BPES is very rare: only 50–100 cases have been described. [en.wikipedia.org]

Non-small cell lung cancer: epidemiology, risk factors, treatment, and survivorship. Mayo Clin Proc. 2008; 83:584–94. 2. [oncotarget.com]

Thus, decreased apoptotic and antiproliferative activities caused by mutant forms of FOXL2 found in BPES patients may at least partially contribute to the pathophysiology of ovarian dysfunction. [jstage.jst.go.jp]

Etiology Inherited as autosomal dominant with up-to 50% happened sporadically Pathophysiology BPES types I and II were each mapped on the long arm of chromosome 3, due to mutations within, or influencing FOXL2 gene, Its protein product expressed in lids [eyewiki.aao.org]

Two pathophysiological mechanisms are discussed. One suggests an initial process of inhibition of follicular development and an increase in the level of follicular atresia. [elsevier.es]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

These results suggest that following guidance should be effective to prevent aggravation of eyelid dermatitis during the ceder pollination seaseon; 1) When you are exposed to the air containing pollens, the primary prevention is to cleanse off the pollens [ci.nii.ac.jp]

Being aware of the characteristic clinical features of blepharophimosis, ptosis, epicanthus inversus and telecanthus will prevent unnecessary investigations, aid early genetic diagnosis, inform about possible associated features and will guide appropriate [pediatricneurosciences.com]

Now, many surgeons suggest correction of ptosis first, even at a very early age, to prevent amblyopia. Soft-tissue medial canthal and lateral canthal surgery can wait until the face is grown. [fr.slideshare.net]

Thus, we suggest correction of ptosis first, even at a very early age for the prevention of amblyopia, followed by correction of telecanthus and small HPFL at an older age. [nature.com]