Summary.— An atypical form of erythrokeratoderma variabilis, profound bilateral perceptive deafness, physical retardation, and specific neurological disturbances are described in a girl aged 8 from County Tyrone, Northern Ireland. The differential diagnosis is discussed and abnormal EMG, nerve conduction and muscle biopsy findings are described. The syndrome is considered to be due to a “dominant” mutant gene. Only one case with a similar constellation of findings has previously been described (Schnyder et al., 1968), although there are some differences in detail between the two.

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Summary. Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.

The oral-facial-digital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789-792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retinochoroidal lacunae of an apparently colobomatous origin. Toriello [1993: Clin Dysmorph 2:95-105] designated this possible new OFDS as Type IX. We describe a young woman presenting with oral, facial and digital anomalies and with the specific retinal abnormality reported by Gurrieri et al. [1992], thus confirming the existence of OFDS Type IX. As the patients of Gurrieri et al. [1992] were two affected brothers, they were unable to distinguish between autosomal and X-linked recessive inheritance. As our patient is an affected female, an autosomal recessive mode of inheritance is more likely.

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