|Year : 1993 | Volume
| Issue : 3 | Page : 149-150
M Shafi, ML Khatri
Source of Support: None, Conflict of Interest: None
A case of Waardenburg's syndrome with typical clinical features and unusual developmental anomalies of thoracic cage and upper extrmitites is presented.
Keywords: Waardenburg′ s syndrome
|How to cite this article:|
Shafi M, Khatri M L. Waardenburg's syndrome. Indian J Dermatol Venereol Leprol 1993;59:149-50
| Introduction|| |
Waardenburg's syndrome is determined by an autosomal dominant gene with variable penetrance. The clinical features include lateral displacement of medial canthi with dystopia canthorum, hypertrophy of the nasal root, heterochromia of iris (total or partial), confluence and hyperplasia of medial portion of eyebrows (synophrys), perceptive deafness and white forelock. In this report we describe a case of Waardenburg's syndrome having additional developmental abnormalities.
| Case Report|| |
A 20-year-old male Libyan patient was admitted in April 1991 for evaluation. The patient was deaf-mute since birth. He also had a big white forelock involving the frontoparietal area of scalp and patches of depigmentation and hyperpigmentation over the central area of face, neck and trunk since birth. [Figure - 1]. His nasal bridge was thick and the medial canthi of eyes were displaced laterally. The iris of his both eyes were lighter with different grades of colour and the pupil on the left side was irregular and dilated. The eyebrows were confluent. His thoracic cage, clavicles and upper extremities were poorly developed with syndactyly of both hands and fin-like appearance [Figure - 2]. His mental development was normal. Non of his parents had any manifestation of the syndrome. One of his first cousins is supposed to have similar abnormalities but has not been seen by us.
Routine laboratory investigations on blood, urine and stools did not reveal any abnormality. Audiometry confirmed a severe sensineural deafness on both sides. X-rays of the chest and upper extremities revealed poor development of clavicles and thoracic cage with crowding of upper ribs, shortness and bowing of both ulna and radius, synostosis of carpal and metacarpal bones with reduced joint spaces and new bone formation.
| Comments|| |
The patient had all the characteristic constituents of the syndrome. He also had piebaldism. Such an association has been reported. , The developmental abnormalities of clavicles, thoracic cage, upper extremities and hands in our patient were additional prominent findings. Wiedemann et al  have mentioned diverse anomalies of upper extremities in this condition. Additionally, association of abnormalities like hare lip, high-arched palate, and massive jaw have been reported earlier. 
| References|| |
|1.||Bleehen SS, Bling FJG, Champion RH. Disorders of Skin Colour. In : Textbook of Dermatology, (Champion RH, Burton JL, Ebling FJG, eds), 4th edn. Oxford : Blackwell Scientific, 1992. 1606. |
|2.||Butterworth T, Ladda RL. Clinical Genodermatology. 1st edn. New York Praeger Publishers, 1981; 48-50. |
|3.||Wiedemann Kiel HR, Grosse KR, Dibbern H. Waardenburg's Syndrome Type I and II. In : An Atlas of Characteristic Syndromes (Crruthers GB, ed). London: Wolfe Medical Publications, 1985; 260-1. |
[Figure - 1], [Figure - 2]