Hajdu-Cheney Syndrome Associated with Intrauterine Fractures and Arachnoid Cysts

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 majority of these fractures are in childhood. One case presented with intrauterine fractures [Hoey et al, 1983]. Although mentioned in case reports but never emphasized, fracture non‐union seems to occur more frequently than one would expect in Hajdu‐Cheney syndrome.…”

“…Coarse, dry skin is present in 7% of cases (4 out of 57), all of which were in early childhood or childhood. Ichthyosis is mentioned in one instance [Hoey et al, 1983] and psoriasis in another [Kaler et al, 1990]. Hirsutism is described in 16% of cases, all confined to early childhood or childhood save for one occurrence in early adolescence.…”

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

“…Rosenmann et al [40], Elias et al [41], Bruckner et al [42], Letchumanan et al [43], Stathopoulos et al [44], and Nunziata et al [16] argue that the most prevalent signs in HCS are acroosteolysis and generalized osteoporosis. Hoey et al's [45] study stands out as it reports a case with intrauterine fractures, as do the studies of Barakat et al [18] and Battelino et al [46], who remark renal alterations as their main result; Siklar's [17] contribution regarding growth hormone and its relation to short stature in patients with HCS and Herscovici et al's [47] study presenting cervical instability as a sign of the disease also stand out. We must also note the studies of Bazopoulou-Kyrkanidou et al [48] and Antoniades et al [49], which focus on dental anomalies.…”