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Indian Journal of Ophthalmology Oct 2017Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile...
Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.
Topics: Abducens Nerve Diseases; Abnormalities, Multiple; Diagnosis, Differential; Duane Retraction Syndrome; Female; Humans; Infant; Male; Neuroimaging; Oculomotor Muscles
PubMed: 29044089
DOI: 10.4103/ijo.IJO_335_17 -
Middle East African Journal of... 2019Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition,...
Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.
Topics: Anisometropia; Blepharoptosis; Child; Esotropia; Eye Abnormalities; Heart Defects, Congenital; Humans; Jaw Abnormalities; Male; Nervous System Diseases; Optic Disk; Reflex, Abnormal
PubMed: 31114123
DOI: 10.4103/meajo.MEAJO_279_18 -
Eye (London, England) Jun 2015
Topics: Abducens Nerve Diseases; Duane Retraction Syndrome; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Suture Techniques; Tendon Transfer
PubMed: 25657043
DOI: 10.1038/eye.2014.309 -
Cell Reports Aug 2018Cranial motor nuclei in the brainstem innervate diverse types of head and neck muscles. Failure in establishing these neuromuscular connections causes congenital...
Cranial motor nuclei in the brainstem innervate diverse types of head and neck muscles. Failure in establishing these neuromuscular connections causes congenital cranial dysinnervation disorders (CCDDs) characterized by abnormal craniofacial movements. However, mechanisms that link cranial motor nuclei to target muscles are poorly understood at the molecular level. Here, we report that protocadherin-mediated repulsion mediates neuromuscular connection in the ocular motor system in zebrafish. We identify pools of abducens motor neurons that are topographically arranged according to soma size and convergently innervate a single muscle. Disruptions of Duane retraction syndrome-associated transcription factors reveal that these neurons require Mafba/MAFB, but not Sall4/SALL4, for differentiation. Furthermore, genetic perturbations of Pcdh17/protocadherin-17 result in defective axon growth and soma clumping, thereby abolishing neuromuscular connectivity. Our results suggest that protocadherin-mediated repulsion forms the central topography and efferent projection pattern of the abducens nucleus following Mafba-dependent specification and imply potential involvement of protocadherins in CCDD etiology.
Topics: Abducens Nucleus; Animals; Brain Stem; Humans; Zebrafish
PubMed: 30089266
DOI: 10.1016/j.celrep.2018.07.024 -
Eye (London, England) Jun 2015
Topics: Abducens Nerve Diseases; Duane Retraction Syndrome; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Suture Techniques; Tendon Transfer
PubMed: 25657042
DOI: 10.1038/eye.2014.310 -
The Pan African Medical Journal 2014We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and...
We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on right gaze. On left gaze there was narrowing of the palpebral fissure of the right eye with marked limitation of adduction and an upshoot, or occasionally a downshoot, of the eyeball. This report demonstrates that Duane's syndrome occurs in West Africa. Therefore, detailed examination of all patients with squints is important to ensure accurate diagnosis and appropriate management of the patient's condition.
Topics: Child, Preschool; Duane Retraction Syndrome; Exotropia; Female; Humans
PubMed: 25722769
DOI: 10.11604/pamj.2014.19.96.4641 -
Journal of AAPOS : the Official... Dec 2015
Topics: Child, Preschool; Duane Retraction Syndrome; Exotropia; Fibrosis; Head; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Posture
PubMed: 26691035
DOI: 10.1016/j.jaapos.2015.05.023 -
Indian Journal of Ophthalmology Mar 2015
Topics: Duane Retraction Syndrome; Esotropia; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Vision, Binocular
PubMed: 25971188
DOI: 10.4103/0301-4738.156965 -
Hormone Research in Paediatrics 2024The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for...
INTRODUCTION
The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome, and Holt-Oram syndrome. We report a family with vertical transmission of a SALL4 pathogenic variant leading to radial hypoplasia and kidney dystopia in several generations with additional growth hormone deficiency (GHD) in the proband.
CASE PRESENTATION
Our male proband was born at the 39th week of gestation. He was born small for gestational age (SGA; birth weight 2,550 g, -2.2 SDS; length 47 cm, -2.0 SDS). He had bilateral asymmetrical radial ray malformation (consisting of radial hypoplasia, ulnar flexure, and bilateral aplasia of the thumb) and pelvic kidney dystopia, but no cardiac malformations, clubfoot, ocular coloboma, or Duane anomaly. He was examined for progressive short stature at the age of 3.9 years, where his IGF-1 was 68 μg/L (-1.0 SD), and growth hormone (GH) after stimulation 6.2 μg/L. Other pituitary hormones were normal. A brain CT revealed normal morphology of the cerebral midline and the pituitary. He had a dental anomaly - a central mandibular ectopic canine. MRI could not be done due to the presence of metal after multiple corrective plastic surgeries of his hands. His mother's and father's heights are 152.3 cm (-2.4 SD) and 177.8 cm (-0.4 SD), respectively. His father has a milder malformation of the forearm. The affected paternal grandfather (height 164 cm; -2.3 SD) has a radial ray defect with missing opposition of the thumb. The family reports a similar phenotype of radial dysplasia in the paternal grandfather's mother. The proband started GH therapy at age 6.5 years when his height was 109 cm (-2.8 SDS) and he experienced catch-up growth as expected in GHD. Puberty started spontaneously at the age of 12.5 years. At age 13, his height was 158.7 cm (-0.2 SDS). Whole-exome sequencing revealed a nonsense variant in the SALL4 gene c.1717C>T (p.Arg573Ter) in the proband, his father, and paternal grandfather.
CONCLUSION
This is the first observation of a patient with a congenital upper limb defect due to a pathogenic SALL4 variant who has isolated GHD with no apparent cerebral or facial midline anomaly and has been successfully treated with growth hormone.
Topics: Child, Preschool; Humans; Male; Duane Retraction Syndrome; Human Growth Hormone; Hypopituitarism; Kidney; Phenotype; Transcription Factors; Upper Extremity; Adult
PubMed: 37611564
DOI: 10.1159/000531996 -
Cureus Jun 2023The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology...
The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology affecting the muscle or the supplying nerve can lead to blepharoptosis. In this study, we share our experience of a two-year-old baby boy patient who presented with a rare congenital disorder manifested as blepharoptosis increased with adduction bilaterally with no limitation of ocular muscles action except bilateral underaction of inferior oblique muscles. To our knowledge, this unusual presentation has not been previously reported in the literature. We aim in this report to build more knowledge on such a rare clinical presentation. Based on the findings, this could be a case of congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). CCDDs/CID is a group of conditions that includes blepharoptosis as part of their clinical presentation. This group of conditions includes Duane's retraction syndrome, congenital fibrosis of extraocular muscles, and monocular elevation defect.
PubMed: 37456445
DOI: 10.7759/cureus.40422