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Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
Am J Med Genet A 2013; 161A(8):1875-81AJ

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.

Authors+Show Affiliations

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23794361

Citation

Abdel-Salam, Ghada M H., et al. "Further Delineation of the Clinical Spectrum in RNU4ATAC Related Microcephalic Osteodysplastic Primordial Dwarfism Type I." American Journal of Medical Genetics. Part A, vol. 161A, no. 8, 2013, pp. 1875-81.
Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, et al. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A. 2013;161A(8):1875-81.
Abdel-Salam, G. M., Abdel-Hamid, M. S., Hassan, N. A., Issa, M. Y., Effat, L., Ismail, S., ... Zaki, M. S. (2013). Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. American Journal of Medical Genetics. Part A, 161A(8), pp. 1875-81. doi:10.1002/ajmg.a.36009.
Abdel-Salam GM, et al. Further Delineation of the Clinical Spectrum in RNU4ATAC Related Microcephalic Osteodysplastic Primordial Dwarfism Type I. Am J Med Genet A. 2013;161A(8):1875-81. PubMed PMID: 23794361.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. AU - Abdel-Salam,Ghada M H, AU - Abdel-Hamid,Mohamed S, AU - Hassan,Nihal A, AU - Issa,Mahmoud Y, AU - Effat,Laila, AU - Ismail,Samira, AU - Aglan,Mona S, AU - Zaki,Maha S, Y1 - 2013/06/21/ PY - 2013/01/24/received PY - 2013/04/08/accepted PY - 2013/6/25/entrez PY - 2013/6/25/pubmed PY - 2013/10/18/medline KW - RNU4ATAC KW - abnormal gyral pattern KW - interhemispheric cyst KW - microcephalic osteodysplastic primordial dwarfism I (MOPD I) KW - molar tooth sign KW - pigmentary disorder KW - vasculopathy SP - 1875 EP - 81 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 161A IS - 8 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23794361/Further_delineation_of_the_clinical_spectrum_in_RNU4ATAC_related_microcephalic_osteodysplastic_primordial_dwarfism_type_I_ L2 - https://doi.org/10.1002/ajmg.a.36009 DB - PRIME DP - Unbound Medicine ER -