Congenital Anomalies in Duane's Retraction Syndrome

Pfaffenbach, David D.; Cross, Harold E.; Kearns, Thomas P.

doi:10.1001/archopht.1972.01000030637013

Cited by 155 publications

(56 citation statements)

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“…[2][3] Although Duane syndrome is considered a clinically distinct condition, genetic heterogeneity has been suspected. In fact a few atypical cases of Duane syndrome have been described in association with deafness, renal defects, muscular, and skeletal anomalies [4][5][6][7] and chromosome imbalances. [7][8][9][10] In particular a contiguous gene syndrome consisting of Duane syndrome, branchio-oto-renal syndrome (BOR), hydrocephalus and trapeze aplasia was found in a patient with 8q12.2-q21.2 deletion.…”

Section: Introductionmentioning

confidence: 99%

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

et al. 1998

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Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.Keywords: chromosome 8; deletion; Duane syndrome; mapping; complex rearrangement IntroductionDuane syndrome is a primary form of strabismus consisting of an ocular motility defect with absent or severely limited abduction and variable limitation of adduction, associated with bilateral globe retraction and narrowing palpebral fissure. 1 This autosomal dominant (MIM 126800) disorder is responsible for approximately 1% of all strabismus cases. Duane syndrome has been clinically subclassified by Huber in three forms which cause deficiency of binocular sight due to altered ocular motility, eventually associated with nistagmus and other ocular anomalies. The pathogenesis of this syndrome is unknown but, in some patients at least, a muscular/neuronal origin has been proved. 187-193 © 1998 Stockton Press All rights reserved 1018-4813/98 $12.00 http://www.stockton-press.co.uk/ejhg Although Duane syndrome is considered a clinically distinct condition, genetic heterogeneity has been suspected. In fact a few atypical cases of Duane syndrome have been described in association with deafness, renal defects, muscular, and skeletal anomalies 4-7 and chromosome imbalances. [7][8][9][10] In particular a contiguous gene syndrome consisting of Duane syndrome, branchio-oto-renal syndrome (BOR), hydrocephalus and trapeze aplasia was found in a patient with 8q12.2-q21.2 deletion. 7 We report on an insertion deletion of chromosome 8q13-q21.2 in a patient presenting with Duane syndrome type I, severe mental retardation, and minor limbs abnormalities. Molecular studies were carried out in order to analyse and map this Duane syndrome containing region. Materials and Methods PatientA 7-year-old girl, the first child of unrelated parents, was referred for cytogenetic analysis on the basis of severe mental retardation and dysmorphisms. Family history was unremarkable. At birth her length was 48 cm and weight 3250 g. At 7 years of age, she was 119 cm in height (5th centile) and weighted 25 kg (65th centile). On clinical evaluation she presented with microcephaly, bil...

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Section: Introductionmentioning

confidence: 99%

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

et al. 1998

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“…Eşlik eden hipermetropi, esotropya, ekzotropya, vertikal kayma, göz tembelliği ve anormal baş pozisyonu görülebilmektedir. [1][2][3][4][5][6][7] Bengi Ece KURTUL ve ark. Heredite oranı yaklaşık %10 olarak belirtilmiş-tir ve otozomal dominant geçiş üzerinde durulmuş-tur.…”

Section: Olgu Sunumuunclassified

“…Heredite oranı yaklaşık %10 olarak belirtilmiş-tir ve otozomal dominant geçiş üzerinde durulmuş-tur. 3 Kadınlarda daha sık görülmekle birlikte, DRS genellikle tek taraflıdır ve sol göz tutulumu sağ göze göre daha sıktır, ortalama %18 bilateraldir. 4,5 Bizim olgumuz, daha az sıklıkla rastlanan erkek çocuk olması, bilateral DRS saptanması ve eşlik eden nadir görülen yerel anomalileriyle dikkat çekiyordu.…”

Section: Olgu Sunumuunclassified

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A Case of Anomaly Accompanied by Type 1 Duane Retraction Syndrome

Kurtul¹,

YAZICI²,

Özer³

2015

Turkiye Klinikleri J Ophthalmol

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Duane retraksiyon sendromu (DRS), addüksiyonda kapak aralığının daralması ve glob retraksiyonu, sıklıkla değişik miktarlarda addüksiyon kısıtlılığı ile beraber abdüksiyon kısıtlanması ve etkilenen gözün addüksiyonda yukarı ve/veya aşağı atımıyla karakterize konjenital bir hastalıktır. A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Duane retraksiyon sendromu; anormallikler A AB BS S T TR RA AC CT T In this case; 2 years 7 months old male patient, who was investigated in department of pediatrics because of atypical facial appearance and suspected syndrome, was presented in order to highlight the anomalies accompanied by Type 1 Duane retraction syndrome (DRS) of both eyes. DRS may be associated with skeleton, auricular, ocular and neural system abnormalities. In this case, oral angular hypoplasia in right part of the mouth and left external ear malformation was detected. No other systemic symptoms were found in patient who was evaluated in the department of neurology, cardiology, ear, nose and throat and genetic. On ophthalmologic examination; the lateral movement of the both globes were limited -3 in right eye, -4 in left eye. Widening of palpebral fissure in abduction, palpebral range narrowing and globe retraction in adduction were present. In the present case, strabismus surgery was not considered because of the orthophoria of globe in primary position and lack of abnormal head position.K Ke ey y W Wo or rd ds s: : Duane retraction syndrome; abnormalities T Tu ur rk ki iy ye e K Kl li in ni ik kl le er ri i J J O Op ph ht th ha al lm mo ol l 2 20 01 15 5; ;2 24 4( (3 3) ): :2 20 07 7--1 10 0

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“…8 DRS occurs in association with other nonocular anomalies, such as Klippel-Feil anomaly, Wildervanck syndrome, and Goldenhar syndrome. 9 The aim of this study was to screen for mutations in SALL4 in patients with isolated DRS and DRS-associated syndromes in South India.…”

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confidence: 99%