Craniofrontonasal dysostosis with deafness and axillary pterygia

Abstract

Craniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. Awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.

Craniofrontonasal dysplasia

“…None of our patients had experienced significant health problems other than those directly related to the skull malformation or the skeletal abnormalities. Deafness has been reported in the literature [11,18] but was not found in this series.…”

Craniofrontonasal syndrome: Study of 41 patients

“…Although most cases are sporadic and occur in females who are generally more severely affected than the few reported males, pedigrees showing vertical transmission have been recorded [Cohen, 1979;Slover and Sujansky, 1979;Hunter and Rudd, 1977, see their Fig. 1, pedigree 1; Pruzansky, 1977;Pruzansky et al, 1982;Reynolds et al, 1982;Reich etal., 1985;Kumar et al, 1986;Sax and Flannery, 1986;Sfs6n and Prispevok, 1986;Grutzner and Gorlin, 1988;Hurst and Baraitser,1988;Michels et al, 1989;Kere et al, 1990; our series]. Male-to-male transmission has not been ob- served in any publications to date, although Reich et al 119851 noted two instances in a n abstract which has yet to appear as a documented publication.…”

Craniofrontonasal syndrome: Study of 41 patients

“…1, pedigree 1; Pruzansky, 1977;Pruzansky et al, 1982;Reynolds et al, 1982;Reich etal., 1985;Kumar et al, 1986;Sax and Flannery, 1986;Sfs6n and Prispevok, 1986;Grutzner and Gorlin, 1988;Hurst and Baraitser,1988;Michels et al, 1989;Kere et al, 1990; our series]. Male-to-male transmission has not been ob- served in any publications to date, although Reich et al 119851 noted two instances in a n abstract which has yet to appear as a documented publication.…”