HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abstract
We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well.
AuthorsGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Nihal A Hassan, Mahmoud Y Issa, Laila Effat, Samira Ismail, Mona S Aglan, Maha S Zaki
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 8 Pg. 1875-81 (Aug 2013) ISSN: 1552-4833 [Electronic] United States
PMID23794361 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2013 Wiley Periodicals, Inc.
Chemical References
  • Ribonucleoproteins, Small Nucleolar
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Corpus Callosum (pathology)
  • Dwarfism (genetics, pathology)
  • Female
  • Fetal Growth Retardation (genetics, pathology)
  • Hematoma (genetics, pathology)
  • Humans
  • Infant, Newborn
  • Male
  • Microcephaly (genetics, pathology)
  • Mutation (genetics)
  • Osteochondrodysplasias (genetics, pathology)
  • Phenotype
  • Pigmentation Disorders (genetics, pathology)
  • Ribonucleoproteins, Small Nucleolar (genetics)
  • Thalamic Diseases (genetics, pathology)
  • Young Adult

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: