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

• Microstomia

  We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. [ncbi.nlm.nih.gov]

• Large Ears

  We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]

• Joint Limitation

  Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism, hearing impairment, and joint limitations. [ncbi.nlm.nih.gov]

• High Forehead

  forehead, ptosis, blepharophimosis, large low-set ears, bulbous nasal tip, pear-shaped nose Nasal speech Cardiac septal defects, seizures, cryptorchidism Friendly disposition 610443 Management Evaluations Following Initial Diagnosis To establish the [ncbi.nlm.nih.gov]

• 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]

• Beak Nose

  We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]

• Beaked Nose

  We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van [ncbi.nlm.nih.gov]

• Nasal Speech

  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 syndrome (BPES), the [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]

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]

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]

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]

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]

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]

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]

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

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]

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]