Idiopathic Non-Familial Aero-Osteolysis

Foramen magnum impaction in a case of acro-osteolysis

“…but regarded his case as showing the 'full syndrome'. The present case clearly belongs to the group of sporadic non-familial cases such as have been described by Greenberg and Street (1957) and Papavasiliou et al (1960). All the case reports show differences, however, many of which seem to be significant.…”

“…In some cases the manifestations of the disease have appeared to come on later in life. Greenberg and Street (1957) found non-specific fibrosis in their biopsy specimen from the tarsus, as in the skull in our case. Clearly more work is needed to identify the microscopic nature of the lesion.…”

Further evidence that the Hajdu-Cheney syndrome and the ?serpentine fibula-polycystic kidney syndrome? are a single entity

“…The Hajdu-Cheney syndrome (HCS) is a rare pleiotropic autosomal dominant disorder comprising a distinctive face, short stature, and progressive skeletal abnormalities. Since the first description of the syndrome by Hajdu and Kauntze [1948], 49 cases have been published in the English literature [Hajdu and Kauntze, 1948;Liévre and Gama, 1957;Greenberg and Street, 1957;Papavasiliou et al, 1960;Chawla, 1964;Cheney, 1965;Schulze and Gulbin, 1968;Dorst and McKusick, 1969;Shaw, 1969;Matisonn and Ziady, 1973;Herrmann et al, 1973;Zugibe et al, 1974;Silverman et al, 1974;Weleber and Beals, 1976;Brown et al, 1976;Rosenmann et al, 1977;Williams, 1977;Elias et al, 1978;Iwaya et al, 1979;Kawamura et al, 1981;Zahran et al, 1984;Blery et al, 1984;Allen et al, 1984;Van der Houten et al, 1985;Udell et al, 1986;Nunziata et al, 1990;Herscovici et al, 1990;Diren et al, 1990;Kaler et al, 1990;Pellegrini and Widdowson, 1991;Kawamura et al, 1991;Adés et al, 1993;Muller et al, 1994;O'Reilly and Shaw, 1994;Zeman et al, 1994;Grant et al, 1995;Nis...…”

Severe Hajdu-Cheney syndrome with upper airway obstruction

“…Reports of at least 40 other patients with this syndrome since that time were found in the radiological, pediatric, endocrine, oral surgery, and genetic literature [Greenberg and Street, 1957;Papavasiliou et al, 1960;Chawla, 1964;Dorst and McKusick, 1969;Herrmann et al, 1973;Matisonn and Ziady, 1973;Zugibe et al, 1974;Silverman et al, 1974;Weleber and Beals, 1976;Brown et al, 1976;Giula et al, 1976;Rosenmann et al, 1977;Williams, 1977;Elias et al, 1978;Vanek, 1978;Wendel andKemperdick, 1979 Iwaya et al, 1979;Kawamura et al, 1981;Zahran et al, 1984;Chodoroff et al, 1984;Blery et al, 1984;Niijima et al, 1984;Van Den Houten et al, 1985;Udell et al, 1986;Jacobson and Edekien, 1986;Kaler et al, 1990;Nunziata et al, 1990;Herscovici et al, 1990;Diren et al, 1990;Pellegrini and Widdowson, 1991;Kawamura et al, 1991;Adès et al, 1993;Zeman et al, 1994;O'Reilly and Shaw, 1994;Muller et al, 1994;Kaplan et al, 1995;Nishimura et al, 1996]. It became apparent that other signs were commonly found in HCS including a characteristic face described as broad with apparently lowset ears, hypertelorism, bushy eyebrows, lo...…”