Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and K...

Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in two sibs and we suggest Usher syndrome type I could be a prima...

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.

Pendred's syndrome was described in a Sudanese family and its affected members were studied in details. They were a boy (aged 14 years) and a girl (11 years of age) each showing a goitre, a positive perchlorate discharge test, marked sensorineural deafness and evidence of mild hypothyroidism. This study adds an entity to the congenital dyshormonogenesis recognised so far in the Sudan.

We would like to present a case of Klippel-Feil Syndrome in which it is associated with multiple cervical vertebra synostosis, short neck, cervical rib, congenital sclerosis, platybasia, spina-bifida and deafness. We are revising the case history of this syndrome.

Of the five diseases generally recognised as causing congenital defects, viz., toxoplasmosis, rubella, cy tom egaloviral infection, herpes simplex and syphilis (TORCHES) studied in Malaysia, rubella was found to be the most important. A total of 574 children with features of congenital rubella syndrome (CRS) were examined for rubella-specific 19M (in infants four months and below), and for rube...