Waardenburg's syndrome. Report of a family.

Waardenburg's syndrome and familial periodic paralysis.

Nine members in three generations of a Chinese family were found to have Waardenburg's syndrome comprising, mainly, lateral displacement of the inner canthi, broadening of the nasal root and hypertrichosis of the eyebrows. Other minor features were also found. Two patients had in addition, hypokalemic periodic paralysis of the familial type, one had prominent frontal bossing and another, bilate...

Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome.

Papillon-Lefevre syndrome: A report of two cases in a family

Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). This rare disease is inherited as autosomal recessive and characterized by focal hyperkeratotic plaques on elbows and knees, severe periodontal disease resulting in premature loss of teeth. We report two brothers with PLS who did not have a history of this disease in their famil...

Focal dermal hypoplasia (Goltz) syndrome with multiple family member involvement: A case report

Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...

Bazex-Dupre-Christol syndrome: A case report

Bazex-Dupre-Christol (BDC) syndrome is clinically characterizedby multiple basal cell carcinomas of the face that mainly occurduring the second and third decade of life, follicular atrophodermapredominantly of the dorsum sides of the hands and feetand generalized hypotrichosis; sometimes with pili torti andtrichorrhexis nodosa. Features commonly associated with BDCare milia, hypohidrosis and ca...