Publications by authors named "Adam J Jonas"

3 Publications

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Hereditary multiple exostoses with spine involvement in a 4-year-old boy.

Am J Med Genet A 2010 May;152A(5):1264-7

David Geffen School of Medicine at UCLA, Los Angeles, CA 90509, USA.

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by multiple osteochondromas. We describe a case of acute cervical spinal cord compression arising from an exostosis at the lamina of C7 and T1 in a 4-year-old Mexican-American boy with HME. His affected sibling also displayed spinal cord compression because of a bony exostosis. Acute cervical spinal cord compression resulting from osteochondroma is a serious complication of HME. (c) 2010 Wiley-Liss, Inc.
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http://dx.doi.org/10.1002/ajmg.a.33345DOI Listing
May 2010

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

J Pediatr 2009 Dec;155(6):924-7

Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
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http://dx.doi.org/10.1016/j.jpeds.2009.06.046DOI Listing
December 2009

Costello syndrome with pancreatic islet cell hyperplasia.

Am J Med Genet A 2004 Nov;130A(4):402-5

Division of Medical Genetics, Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA 90502, USA.

A 3-month-old boy with Costello syndrome (CS) developed respiratory distress and fatal arrhythmias. An autopsy showed cardiac hypertrophy, mild coarctation of the aorta, and pancreatic islet cell hyperplasia. To our knowledge, this is the first report of a pancreatic abnormality in CS. Islet cell hyperplasia has also been observed in leprechaunism, Beckwith-Wiedemann (BWS), and Simpson-Golabi-Behmel syndromes. The syndromes are thought to involve abnormal insulin or insulin-like growth factor (IGF) pathways. Clinical similarities among these disorders and CS, together with the finding of islet cell hyperplasia, suggest that they may be related.
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http://dx.doi.org/10.1002/ajmg.a.30288DOI Listing
November 2004