Hajdu-Cheney Syndrome: MR imaging

Abstract

Hajdu-Cheney syndrome is a rare congenital disease with acro-osteolysis, osteoporotic changes of the spine and long bones of extremities and marked basilar invagination with an unusually deformed skull. Magnetic resonance imaging of a 32-year-old male revealed the deformed skull and almost horizontal basal angle and the elongated and upwardly shifted brain stem caused by the tip of the odontoid process of the second cervical vertebra invaginating the base of the skull. In addition there were atrophic pituitary gland, widely open sella turcica and symmetrical fluid collections along the optic nerve sheath.

Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems

“…Fifty‐two cases met the inclusion criteria and were reviewed [Hajdu and Kauntze, 1948; Chawla, 1964; Cheney, 1965; Dorst and McKusick, 1969; Shaw, 1969; Herrmann et al, 1973; Matisonn and Ziady, 1973; Silverman et al, 1974; Zugibe et al, 1974; Brown et al, 1976; Weleber and Beals, 1976; Rosenmann et al, 1977; Williams, 1977; Coigne et al, 1978; Elias et al, 1978; Iwaya et al, 1979; Kawamura et al, 1981; Allen et al, 1983; Hoey et al, 1983; Chodoroff et al, 1984; Zahran et al, 1984; Van Den Houten et al, 1985; Macpherson and Shashidhar Pai, 1989; Diren et al, 1990; Herscovici et al, 1990; Kaler et al, 1990; Nunziata et al, 1990; 1991; Kawamura et al, 1991; Pellegrini and Widdowson, 1991; Adès et al, 1993; O'Reilly and Shaw, 1994; Zeman et al, 1994; Kaplan et al, 1995; Barakat, 1996; Nishimura et al, 1996; Tanimoto et al, 1996; Crifasi et al, 1997; Fryns et al, 1997; Golnik and Kersten, 1998; Leidig‐Bruckner et al, 1999]. The six individuals from two families reported here were also included; one of these individuals was reported previously [Golnik and Kersten, 1998].…”

“…The tips can swell and become bulbous, which is an abnormality sometimes referred to as clubbing or pseudoclubbing. Bone loss at the ends produces a “flabbiness” at the distal portions [Hajdu and Kauntze, 1948], which can affect fine motor skills [Kawamura et al, 1991]. Fingernails are often thick, dystrophic, and gray‐yellow in color [Allen et al, 1983].…”

Severe Osteoporosis in Familial Hajdu–Cheney Syndrome: Progression of Acro-Osteolysis and Osteoporosis During Long-Term Follow-up

“…Besides the skeletal lesions, the clinical course is determined by the development of neurological complications (5)(6)(7)(8)(9) due to anomalies of the craniovertebral junction, which may cause basiliar invagination. Fortunately our patient did not have respective complications during followup until the age of 39 years.…”

“…H AJDU-CHENEY SYNDROME (hereditary osteodysplasia with acro-osteolysis) is a rare disorder characterized by the typical findings of acro-osteolysis, brachydactyly, a distinctive facies with micrognathia, early loss of teeth, and short stature. The syndrome occurs sporadically (1)(2)(3)(4)(5)(6)(7)(8)(9) or familial with autosomal dominant inheritance. (10)(11)(12)(13)(14)(15) Acroosteolysis usually develops in late childhood in the distal phalanges of the fingers and, less frequently, of the toes.…”

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...…”