The smallest of the small |
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| Authors: | Judith G. Hall |
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| Affiliation: | Department of Medical Genetics, University of British Columbia and BC Children''s Hospital Vancouver, British Columbia, Canada; Department of Pediatrics, University of British Columbia and BC Children''s Hospital Vancouver, British Columbia, Canada |
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| Abstract: | Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) II has recently been defined as a PCNT gene defect. Historically, it has been a disorder of interest because of the severe intrauterine growth restriction and postnatal short stature. The very shortest/smallest mature human being undoubtedly had this disorder. Maria Zarate lived between 1864 and 1890 and traveled in sideshows to England and all over North America. Her exceeding short stature was well documented in photographs and by a group of physicians in England. She was Mexican and also had an affected brother. A museum, Museo Casa Grande, about her still exists in Cempoala, Mexico. |
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| Keywords: | ASPM asp, (abnormal spindle) homolog, microcephaly associated (Drosophila) ATR, ataxia telangiectasia and Rad3 related CENP, centromere protein CDK5RAP2, CDK5 regulatory subunit associated protein 2 cm, centimeter(s) CNS, central nervous system Fig, Figure IUGR, intrauterine growth restriction LPA, Little People of America MCPH2, microcephaly 2, primary autosomal recessive with or without cortical malformations MOPD, microcephalic osteodysplastic primordial dwarfism PCNT, pericentrin |
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