Goldenhar's syndrome: case report

A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed.     

Aplasia of the right lung and calcifying epithelioma in association with Goldenhar's syndrome

A case of Goldenhar''s syndrome (oculoauriculovertebral dysplasia) with the rare association of aplasia of one lung is presented with a discussion of the clinical findings and the aetiology. The major abnormalities, pulmonary, renal and the undergrowth of the jaw were all right-sided, confirming previous reports. This child developed a calcifying epithelioma and this is cited as support for the theory of the origin of these lesions from epidermoid cysts.     

胸骨畸形／血管发育不良综合征伴线状色素减退

作者报道1例7岁男孩面部有血管瘤、胸骨局部凹陷、主动脉缩窄、室间隔缺损及脑动脉发育不良引起急性梗塞。这些临床特征被总称为胸骨畸形／血管发育不良综合征或PHACES综合征。在5岁时，患儿右臂、右手和背部沿Blaschko线出现线状色素减退，发病前无炎症史，皮损持续不变。之前报道的此综合征不伴发上述色素改变。     

Ectrodactary, ectodermal dysplasia, and cleft lip-palate syndrome

The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.     

Lemierre's syndrome (necrobacillosis)

Lemierre''s syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.


     

Ataxica telengiectasia (Louis-Bar syndrome)

A case of ataxia telengiectasia in a 7-year-old girl with symptoms for last 3 years has been reported in detail. The necessary literature has been reviewed with proper references.