Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3

The anomaly can be unilateral or bilateral and occurs in isolation or in association with anomalies in other organs. 16 Familial examples of Mondini dysplasia generally represent examples of Pendred syndrome, an autosomal recessive disorder in which congenital sensorineural hearing impairment and goitre cosegregate. Because Pendred syndrome is caused by mutations inPDS, a gene that maps to chromosome 7q31, the simultaneous occurrence of atypical EEC syndrome and Pendred syndrome in our patient seemed an attractive possibility to explain the rare combination of physical findings. There was no mention of any chromosomal anomaly. [...]sensorineural hearing impairment has rarely been reported in syndromic SHFM. 21-26 In two of these cases, however, an apparently balanced translocation involving chromosome 7q was found to cosegregate with the disease. 25 26 Conductive hearing loss is observed in 14-44% of cases of EEC syndrome, most commonly reflecting Eustachian tube dysfunction in association with the palatal clefting, 3 4 although ossicular malformations have been described. 27 Of 10 patients with ectrodactyly in association with a deletion of 7q21-q22, microcephaly and general growth impairment have been reported in eight cases (80% 7 9 ) compared to only 2% and 1%, respectively, in a survey of 230 patients with EEC syndrome. 4 While adenohypophyseal dysfunction in two sets of sibs has been reported in EEC syndrome, 28 29 partial growth hormone deficiency was identified in our patient as the aetiology of the growth retardation.