Literature DB >> 1468457

Osteopetrosis: brain ultrasound and computed tomography findings.

P J Patel1, T M Kolawole, S al-Mofada, T M Malabarey, A Hulailah.   

Abstract

A case of osteopetrosis presenting with rare features of dysmorphism with proptosis due to hypoplasia of the orbits and the temporal bone is described. The case also had calcifications in the periventricular regions, the falx cerebri and the corpora colliculi. These features and sonographic findings of osteopetrosis have not been reported previously. The sensitivity and specificity of imaging modalities in the diagnosis of intracranial calcifications is discussed.

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Year:  1992        PMID: 1468457     DOI: 10.1007/bf01957934

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  7 in total

1.  Cranial ultrasound in the detection of intracranial calcifications.

Authors:  F D Dykes; P A Ahmann; A Lazzara
Journal:  J Pediatr       Date:  1982-03       Impact factor: 4.406

2.  Infant cranial sonography.

Authors:  E G Grant; F Tessler; R Perrella
Journal:  Radiol Clin North Am       Date:  1988-09       Impact factor: 2.303

3.  Noncystic "increased" periventricular echogenicity and other mild cranial sonographic abnormalities: predictors of outcome in low birth weight infants.

Authors:  R B Goldstein; R A Filly; S Hecht; S Davis
Journal:  J Clin Ultrasound       Date:  1989-10       Impact factor: 0.910

4.  Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.

Authors:  W A Cumming; A Ohlsson
Journal:  Radiology       Date:  1985-11       Impact factor: 11.105

5.  Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

Authors:  A Ohlsson; G Stark; N Sakati
Journal:  Dev Med Child Neurol       Date:  1980-02       Impact factor: 5.449

6.  Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.

Authors:  M P Whyte; W A Murphy; M D Fallon; W S Sly; S L Teitelbaum; W H McAlister; L V Avioli
Journal:  Am J Med       Date:  1980-07       Impact factor: 4.965

7.  Osteopetrosis: some unusual radiological features with a short review.

Authors:  T M Kolawole; N D Hawass; P J Patel; A H Mahdi
Journal:  Eur J Radiol       Date:  1988-05       Impact factor: 3.528

  7 in total
  5 in total

1.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Authors:  M A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; E H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; A Ion; M A Patton; V Murday; A George; A H Crosby
Journal:  Am J Hum Genet       Date:  2007-09-14       Impact factor: 11.025

2.  Intracranial calcification in Raine syndrome.

Authors:  K A Al Mane; R K Coates; P McDonald
Journal:  Pediatr Radiol       Date:  1996

3.  Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Authors:  Ana Carolina Acevedo; James A Poulter; Priscila Gomes Alves; Caroline Lourenço de Lima; Luiz Claudio Castro; Paulo Marcio Yamaguti; Lilian M Paula; David A Parry; Clare V Logan; Claire E L Smith; Colin A Johnson; Chris F Inglehearn; Alan J Mighell
Journal:  BMC Med Genet       Date:  2015-02-21       Impact factor: 2.103

4.  SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Authors:  Eva-Lena Stattin; Petra Henning; Joakim Klar; Emma McDermott; Christina Stecksen-Blicks; Per-Erik Sandström; Therese G Kellgren; Patrik Rydén; Göran Hallmans; Torsten Lönnerholm; Adam Ameur; Miep H Helfrich; Fraser P Coxon; Niklas Dahl; Johan Wikström; Ulf H Lerner
Journal:  Sci Rep       Date:  2017-06-07       Impact factor: 4.379

5.  Two Novel FAM20C Variants in A Family with Raine Syndrome.

Authors:  Araceli Hernández-Zavala; Fernando Cortés-Camacho; Icela Palma Lara; Ricardo Godinez-Aguilar; Ana María Espinosa-García; Javier Pérez-Durán; Patricia Villanueva-Ocampo; Carlos Ugarte-Briones; Carlos Alberto Serrano-Bello; Paula Sanchez-Santiago; José Bonilla-Delgado; Marco Antonio Yañez-López; Georgina Victoria-Acosta; Adolfo López-Ornelas; Patricia García Alonso-Themann; José Moreno; Carmen Palacios-Reyes
Journal:  Genes (Basel)       Date:  2020-02-20       Impact factor: 4.096

  5 in total

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