Affiliation: Johns Hopkins University
- Weight for age charts for children with achondroplasiaJ E Hoover-Fong
Johns Hopkins University, Baltimore, Maryland 21287, USA
Am J Med Genet A 143:2227-35. 2007..g., length, BMI), other skeletal dysplasia diagnoses, and to syndromic, non-skeletal dysplasia diagnoses which may benefit from standardization of weight for age...
- Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of heightJulie E Hoover-Fong
Johns Hopkins University, Baltimore, MD, USA
Am J Clin Nutr 88:364-71. 2008..Body mass index (BMI)-for-age references are required for weight management guidance for children with achondroplasia, whose body proportions are unlike those of the average stature population...
- Congenital T cell deficiency in a patient with CHARGE syndromeJulie Hoover-Fong
McKusick Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA
J Pediatr 154:140-2. 2009..We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation...
- Mosaic trisomy 13: understanding origin using SNP arrayNatini Jinawath
Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
J Med Genet 48:323-6. 2011..Microsatellite analyses of trisomy 13 have indicated the high incidence of maternal meiotic origin and reduced recombination, but no study has focused on mosaic trisomy 13 in live born patients...
- Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children s Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA
Pediatrics 118:e514-21. 2006..Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation...
- Hearing loss in skeletal dysplasia patientsDavid Tunkel
Department of Otolaryngology Head and Neck Surgery, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287 0910, USA
Am J Med Genet A 158:1551-5. 2012..Adults were more likely to fail hearing screening than children. Abnormal tympanometry is associated with hearing loss. Hearing screening with appropriate intervention is recommended for these patients...
- Perinatal detection of familial adenomatous polyposisMeredith L Birsner
Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Obstet Gynecol 120:500-3. 2012..Hepatoblastoma is an uncommon fetal neoplasm that may represent an isolated malignancy or a component of a familial cancer or syndromic diagnosis...