Osteopathia striata with cranial sclerosis affecting three family members

Abstract

Skeletal surveys were performed on a 38-year-old Japanese mother, her son and daughter. The radiographs of both children showed characteristic features of osteopathia striata. However, in the mother, the skull, mandible, and lower extremities were homogeneously sclerotic with no evidence of a striated pattern of sclerosis in her skeleton. Additional features of striated sclerosis of the mandible in patients with osteopathia striata are discussed.

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

“…inheritance with quite variable expressivity [Bass et al, 1980;Cortina et al, 1981;Currarino et al, 1986;Horan and Beighton, 1978;de Keyser et al, 1983;Nakamura et al, 1985;Winter et al, 1980;our family]. In general, more female than male patients exhibit a severe phenotype and complications are more common in females than in males.…”

“…*Bass et al, 1980;Bloor, 1954;de Boer and van Gool, 1974;Clement et al, 1982;Clementi et al, 1993;Cortina et al, 1981;Currarino and Friedmann, 1986;Culver and Thumasathit, 1972;Franklyn and Wilkinson, 1978;Gay et al, 1994;Goodmann and Robertson, 1993;Hoeffel and Merle, 1990;Horan and Beighton, 1978;Hurt, 1953;Jones and Mulcahy, 1968;de Keyser et al, 1983;Kornreich et al, 1988;Nakamura et al, 1985;Odrezin and Krasikov, 1993;Paling et al, 1981;Piechowiak et al, 1986;Robinow and Unger, 1984;Sevaux and Galmiche, 1970;Schnyder, 1980;Taybi and Nurock, 1969;Walker, 1969;Winter et al, 1980; own cases 11-2, 111-1,111-2, IV-1, and IV-2.…”

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features

“…Skull thickening (cranial sclerosis) is the most typical and early feature [1,6,8,10-37] (85%), often presenting before longitudinal bone striations, and typically affects cranial vault, base and some facial bones, leading to sinuses obliteration and reduction of mastoid pneumatization [1,10,12-14,19,21,26,33,34] (sometimes responsible for failure to thrive). Facial dysmorphisms include macrocephaly (43%) [2,11-17,19,20,27-32,34,36-39], frontal and occipital bossing (32%) [2,11-15,17,19-21,30-33,36], mandible overgrowth with protuberance of the jaw and dental malocclusion (12%) [2,11,14,23] (giving a leonine appearance), ocular hypertelorism [6,8,10,14,19,20,23,27,29-31,38-40], down-slanting palpebral fissures [19,28,31], low set broad nasal bridge (29%) [1,2,6,8,12,14,15,17,18,20,23,30-32,37,38,41,42], narrow high-arched or cleft palate (Pierre Robin’s triad) (12%) [2,6,8,14-16,19,21,30,31,35] and low set dysplastic ears (9%) [6,12,19,20,29-31,…”

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?

“…The patient's father and her paternal halfbrother were reported to have the facial changes of the disorder but radiographs were not obtained. Other cases [Cortina et al, 1981;Currarino and Freidman, 1986;Nakamura et al, 1985;Horan and Beighton (kindred 1), 1978] all have affected women who had sons that were similarly or more severely affected. In a large 3-generation family [Winter et al, 1980], a mildly affected father had a more severely affected daughter who then had both an affected son and daughter.…”