Wildervanck syndrome associated with cleft palate and short stature.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

The Clinical Features of Korean Patients with Duane's Retraction Syndrome

PURPOSE: To describe the clinical features of Duane's retraction syndrome (DRS) in Korean patients. METHODS: We retrospectively analyzed the 78 DRS cases that presented to our department between 1995 and 2004. The clinical features investigated included sex distribution, laterality, type of presentation, deviation in primary position, anomalous vertical movements, face turn, amblyopia and anisometropia. RESULTS: There were 38 (48.7%) affected males and 40 (51.3%) females. Left eye predominance (83.3%) was observed, as was type I presentation (85.9%). Orthotropia was found to be the most common primary position in 46 cases (59.0%). Face turn in unilateral DRS was noted in 13 patients (17.1%). There were 6 cases (7.7%) with anisometropia and 4 (5.1%) with amblyopia. CONCLUSIONS: The clinical manifestations of DRS in our study were different from those of equivalent Caucasian studies yet similar to those previously reported for Asian groups. Racial and regional differences were noted, for which further research is needed to elaborate the reasons and mechanisms.

A case of congenital inverse Duane's retraction syndrome

Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no intracranial or intraorbital mass, fracture, or entrapment of the medial rectus. Forced duction test was strongly positive. The primary lesion was found to be a tight medial rectus with shortening and soft tissue contracture. Surgical tenotomy of the medial rectus led to successful postoperative motility, but some limitation at full adduction and abduction persisted. This is a case reported with congenital medial rectus shortening, suggesting that this condition may be one of the etiologies of the rare inverse Duane's retraction syndrome.

Bilateral inverse Duane's retraction syndrome--a case report.

Duane's retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome. Inverse Duane's retraction syndrome is a condition with reverse clinical features. Abduction of the affected eye is possible to some extent and is accompanied by retraction of the eyeball, narrowing of the palpebral fissure and pseudoptosis. There may be some restriction of movement on adduction. The primary lesion is suspected to be in the medial rectus muscle. Frequently the muscle is found to be entrapped following trauma to the medial wall of the orbit. A case of bilateral inverse Duane's retraction syndrome and convergent squint along with left-sided perceptive deafness is reported. As is usually the case there was no structural abnormality or entrapment of the muscle from trauma.

Duane's retraction syndrome with facial hemiatrophy (a case report).

This report deals with a young girl with Duane's retraction syndrome who also had left facial hemiatrophy (Parry-Romberg syndrome). Report of such an association is probably first of its type to be documented in literature.