Severe prenatal infantile cortical hyperostosis (Galley??s disease)

Turnpenny, Peter D.; Davidson, R.; Stockdale, Elizabeth; Tolmie, John; Sutton, Ann

doi:10.1097/00019605-199301000-00012

Cited by 20 publications

(23 citation statements)

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“…Additional cases of hydramnios, anasarca, pulmonary hypoplasia, and hyperostosis were described by others [Drinkwater et al, 1997;Schweiger et al, 2003]. The prognosis is poor, mostly due to prematurity [Turnpenny et al, 1993;Drinkwater et al, 1997]. Radiological and histological findings correspond to those of the classical infantile cortical hyperostosis form.…”

Section: Introductionmentioning

confidence: 71%

“…Sporadic occurrence of the disease was documented in two-thirds of cases with information on family history; in four cases, two or more siblings were born to unaffected parents [Clemett and Williams, 1963;Turnpenny et al, 1993;De Jong and Muller, 1995;Drinkwater et al, 1997]. Consanguinity was reported only once [Turnpenny et al, 1993] and there were equal numbers of male and female patients [Schweiger et al, 2003]. In some other reports, autosomal dominant inheritance has been suggested: in two cases, patients had one affected parent [Faul, 1961;Schärer and Szabo, 1966].…”

Section: Discussionmentioning

confidence: 99%

“…Radiological and histological findings correspond to those of the classical infantile cortical hyperostosis form. The occurrence in siblings of both sexes born to unaffected parents led to the suggestion of autosomal recessive inheritance [Turnpenny et al, 1993;De Jong and Muller, 1995;Drinkwater et al, 1997].…”

Section: Introductionmentioning

confidence: 99%

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Prenatal cortical hyperostosis with COL1A1 gene mutation

Kamoun-Goldrat

Martinovic

Saada

et al. 2008

American J of Med Genetics Pt A

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Infantile cortical hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C --> T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical hyperostosis.

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Section: Introductionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 99%

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Prenatal cortical hyperostosis with COL1A1 gene mutation

Kamoun-Goldrat

Martinovic

Saada

et al. 2008

American J of Med Genetics Pt A

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“…Prenatal presentation of ICH is rare and is frequently associated with a poor prognosis. There are two published reports of ICH diagnosed prenatally in siblings with no family history of the disorder (Turnpenny et al, 1993;De Jong and Muller, 1995). Here we describe a third example of prenatal ICH occurring in siblings with no history of ICH in the parents.…”

Section: Introductionmentioning

confidence: 75%

Recurrent Severe Infantile Cortical Hyperostosis (Caffey Disease) in Siblings

et al. 1997

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“…3,4 The manifestations of the mild prenatal form are not detected before 35 weeks gestation and there is less incidence of polyhydramnios and bone involvement. 5 The etiology is unclear; both the prenatal and classical form could be familiar or sporadic.…”

Section: Introductionmentioning

confidence: 99%

Prenatal onset of sporadic form of infantile cortical hyperostosis

Cohen

2018

Int J Contemp Pediatr

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Infantile cortical hyperostosis, Caffey’s disease, is characterized by cortical swelling of one or several flat or long bones, fever, irritability and decreased movement of the affected bones. The onset of presentation is around ten weeks of age, however, antenatal cases with familial and sporadic forms have being reported. The etiology is unknown. Autosomal dominant or recessive inheritance and sporadic cases have been reported. Present case report describes a mild, antenatal and sporadic form of Caffey’s disease in a newborn infant, who presented with painless swelling and deformity of the right tibia and right forearm.

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Severe prenatal infantile cortical hyperostosis (Galley??s disease)

Cited by 20 publications

References 0 publications

Prenatal cortical hyperostosis with COL1A1 gene mutation

Prenatal cortical hyperostosis with COL1A1 gene mutation

Recurrent Severe Infantile Cortical Hyperostosis (Caffey Disease) in Siblings

Prenatal onset of sporadic form of infantile cortical hyperostosis

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