We report on a family in which a mother and her 2 offspring presented with bilateral radial defects and absent thumbs. In addition, Duane anomaly was present in both offspring, one of whom also had anal stenosis. [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  Developmental delay and muscle hypotonia were observed since the first months of life. [molecularcytogenetics.biomedcentral.com]

• Shortened Upper Limbs

  upper limbs with bilateral thumb aplasia, hypoplastic radius on the left and subtotal aplastic radius on the right, radial club hands, ventricular septal defects, slit-like openings of auditory ducts, and flat feet. [doi.org]

• Primary Amenorrhea

  We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. [ncbi.nlm.nih.gov]

• Amenorrhea

  We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. [ncbi.nlm.nih.gov]

• Spastic Paraplegia

  At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. [ncbi.nlm.nih.gov]

Approach to the patient: an overview The above review emphasizes the need to extend patient evaluation in cases of DRS beyond the routine clinical examination by a strabismologist to genetic analysis, systemic workup and neuroimaging. [dovepress.com]

Treatment Treatment Options: Various treatments can be useful, ranging from prisms for mild cases to muscle surgery for a severe head turn or vertical deviations. [disorders.eyes.arizona.edu]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment with pomalidomide induces degradation of SALL4 as early as 4 h post treatment ( Figure 2F and Figure 2—figure supplement 1H ), which recovered to levels close to pre-treatment level after 48 h post washout ( Figure 2E ), together suggesting [elifesciences.org]

Unilateral rectus muscle recession in the treatment of Duane syndrome. J AAPOS 2012;16:145-9. 13. Sharma P. Unilateral rectus muscle recession in the treatment of Duane syndrome. J AAPOS 2012;16:492-3. 14. [ijo.in]

For the majority of patients, Duane syndrome does not require surgical treatment. [aapos.org]

With careful follow-up, the long-term prognosis for good vision is usually excellent. [aapos.org]

Zanin et al. have classified into three types based on the functional prognosis.[20] Figure 3: (a) Patient with bilateral Duane retraction syndrome showing right exotropia; (b) limitation of ductions in both eyes in right gaze; (c) limitation of ductions [tnoajosr.com]

Also, bilateral type I DRS has been found to be the most common type of presentation.50–52,69 Zanin et al70 have classified bilateral DRS into three types in agreement with Jampolsky,71 based on the functional prognosis: Bilateral DRS with fusion – usually [dovepress.com]

At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. [disorders.eyes.arizona.edu]

Etiology of DRS Various theories were proposed to explain the etiology of DRS. [dovepress.com]

Pierre Robin Syndrome is described in the literature as a triad of abnormalities characterized by micrognathia, glossoptosis, and cleft palate.(4) Some researchers propose the etiological theory of the intrauterine anomalous position of the fetus during [scielo.br]

The ability to adduct in this type is absent to restricted as compared to normal to mildly restricted in types 1 and 2.[7] Etiology Isolated Cases 90% occur sporadically and are commonly unilateral[5] Remaining 10% are inherited and these are commonly [eyewiki.aao.org]

Results In the absence of any etiological diagnosis, array CGH analysis using the 180 K array platform was performed in the patient detecting a 8q12.1q12.3 duplication of 4.2 Mb, as described in Figure 1A. [molecularcytogenetics.biomedcentral.com]

Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study. Orphanet J Rare Dis. 2014;9(1):9. [ Links ] 8 Freitas RS, Alonso N, Scomação I, Busato L, Canan LW Junior, Pinheiro Neto CD. [scielo.br]

Epidemiology It is one of the most common among special strabismus. Female preponderance and unilateral presentation with left eye preference are the common occurrences. A minority of patients have bilateral disease. [tnoajosr.com]

[…] adduction (induced ptosis)[2] Partial deficiency of adduction[4] Oblique movement with attempts at adduction[4] Upshoot or downshoot of globe with adduction (Leash Phenomenon)[2] Widening of palpebral aperture with abduction[2] Deficiency of convergence[4] Epidemiology [eyewiki.aao.org]

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. J AAPOS. 2008;12(6):576–580. 52. Khan AO, Oystreck DT. Clinical characteristics of bilateral Duane syndrome. [dovepress.com]

[…] manner with incomplete penetrance and variable expressivity[2] General Pathology Duane Retraction Syndrome results from an absent or dysplastic abducens motor neurons with aberrant innervations of the lateral rectus muscle by the oculomotor nerve.[7] Pathophysiology [eyewiki.aao.org]

Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. [ghr.nlm.nih.gov]

Bilateral MR recession may also prevent contracture of the MR in the affected eye by creating fixation duress. [tnoajosr.com]

Primary Prevention Duane Retraction Syndrome occurs sporadically or is inherited. No means of primary prevention has been identified for this syndrome. The diagnosis of Duane Retraction Syndrome is primarily clinical. [eyewiki.aao.org]

To eliminate disfiguring abnormal eyelid position The goal of treatment is to restore satisfactory eye alignment in the straight-ahead position, eliminate an abnormal head posture and to prevent amblyopia. Eye muscle surgery is not always required. [aapos.org]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]