MEDICAL ADVISORY PUBLICATIONS

Dr. Rosenbaum has authored numerous articles in the field of Genetics.

Rosenbaum KN and Weisskopf B. Kleblattschadel syndrome.  Journal of Kentucky Medical Association 69:594-597, 1971.

Pai GS, Valle D, Thomas G and Rosenbaum KN.  Cluster of Trisomy 13 live births. Lancet 1:613, 1978.

Rosenbaum KN. The genetics of congenital heart disease. Clinical Proceedings of the Children's Hospital National Medical Center 34:255-262, 1978.

Goldberg KA, Rosenbaum KN, August GP, et al. H-Y antigen and disorders of sexual differentiation. Urology 13:139-141, 1979.

Warsof SL, Larsen JW, Kent SG, Rosenbaum KN, et al. Prenatal diagnosis of congenital adrenal hyperplasia. Obstetrics and Gynecology, 55:751,754, 1980.

Rosenbaum KN. Ambiguous genitalia in the neonate. Medical Aspects of Human Sexuality. 16:36A-E, 1982.

Thomas GT, Miller CS, Toomey KE, Reynolds LW, Reitman ML, Varki A, Vannier A, Rosenbaum KN, et al. Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)-An autosomal recessive disorder. American Journal of Genetics 34:611-622, 1982.

Baden H, Kubilus J, Rosenbaum KN, Fletcher A, et al. Keratinization in the Harlequin fetus. Arch Dermatol 118:14-18, 1982.

Hall JG, Reed SD, Rosenbaum KN, et al. Limb pterygium syndromes: A review and report of 11 patients. American Journal of Medical Genetics 12:377-409, 1982.

Levin LS, Rosenbaum KN, et al. Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth. American Journal of Medical Genetics 13:359-397, 1983.

Broughton WL, Rosenbaum KN and Beauchamp G. Congenital glaucoma and other ocular abnormalities in association with pericentric inversion of chromosome 11. Archives of Ophthalmology 101:594-597, 1983.

Levin LS, Leaf SH, Jelimini RJ, Rose JJ and Rosenbaum KN. Dentinogenesis imperfecta in the Brandywine isolate (OI type III): Clinical, radiologic, and scanning electron microscopic studies of the dentition. Oral Surgery, Oral Medicine, Oral Pathology 56:267-274, 1983.

August GP, Rosenbaum KN, et al. Hypopituitarism and the CHARGE association. Journal of Pediatrics 103:424-425, 1983.

Burk RD, Valle D, Thomas GH, Miller C, Moser H and Rosenbaum KN. Early manifestations of multiple sulfatase deficiency.  Journal of Pediatrics 104:574-578, 1984.

Aziz MA, Dunlap SS and Rosenbaum KN. Embryological and macroanatomical investigations of human sirenomelia with caudal dysplasia. Anatomical Record, 208:11A, 1984.

Sussman MD, Kelly TE, Rosenbaum KN, et al. Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy. Journal of Orthopaedic Research 2:339-345, 1984.

Reiss AL, Feinstein C, Rosenbaum KN, et al. Autism associated with the Williams syndrome. Journal of Pediatrics 106:247-249, 1985.

Dobrowski JM, Grundfast KM and Rosenbaum KN, et al. The otorhinolaryngic manifestations of CHARGE association.  Journal of Otolaryngology, Head and Neck Surgery, 93:798-804, 1985.

Reiss AL, Feinstein C. Toomey KE, Goldsmith B, Rosenbaum KN and Caruso MA. Psychiatric disability associated with the fragile X chromosome. American Journal of Medical Genetics 23:393-402, 1986.

Reiss AL, Feinstein C and Rosenbaum KN.  Autism and genetic disorders. Schizophrenia Bulletin 12:724-738, 1986.

Dunlap SS, Aziz MA and Rosenbaum KN.  Comparative anatomical analysis of human trisomies 13, 18, and 21:I. The forelimb. Teratology 33:159-186, 1986.

Chrousos GA, O'Neill JF, DeWitt GF, Richmond AD, Traboulsi El, Rosenbaum KN and Friendly DS. Ocular findings in partial trisomy 3q: A case report and review of the literature. Ophthalmic Pediatrics and Genetics 9:127-130, 1988.

Saal HM and Rosenbaum KN. Screening the newborn for anatomic and metabolic defects. Pediatric Annals 17:467-476, 1988.

Beck RB, Brudno DS and Rosenbaum KN. Bilateral absence of the ulna in twins as a manifestation of the split hand-split foot deformity. American Journal of Perinatology 6:1-3, 1989.

Migeon BR, Axelman J, de Beur SM, Valle D, Mitchell GA and Rosenbaum KN. Selection against lethal alleles in female heterozygous for incontinentia pigmenti. American Journal of Human Genetics 44:100-106, 1989.

Green JE, Rosenbaum KN, Rapoport SI, Shapiro MB and White BJ. Variant nucleolus organizing regions and the risk of Down syndrome. Clinical Genetics 35:243-250, 1989.

Jabs EW, Coss CA, Hayflick S J, Whitmore TE, Pauli RM, Kirkpatrick S J, Meyers DA, Goldberg R, Day DW, and Rosenbaum KN. Mapping of anonymous DNA sequences to and exclusion of Treacher Collins syndrome locus from chromosome region 4p15.32--p124. Genomics, 11:188-192, 1991.

Berkowitz RG, Grundfast KM, Scott C, Saal HM, Stem HJ, Rosenbaum KN. Middle ear disease in childhood achondroplasia. Ear, Nose and Throat Journal 70:305-308, 1991.

Gorelick MH, Powell CM, Rosenbaum KN, Saal HM, Conry J, and Fitz C. Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1. Clinical Pediatrics 31:313-315, 1992.

Stern HJ, Saal HM, Lee JS, Fain PR, Golgar DE, Rosenbaum KN, Barker DF: Clinical variability of type 1 neurofibromatosis: Is there a neurofibromatosis-Noonan syndrome? Journal Medical Genetics 29:184-187, 1992.

McLean S, Stanley W, Stern H, Fonda-Allen J, Devine G, Ellingham T, Rosenbaum K. Prenatal diagnosis of Pallister-Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in-situ hybridization. Prenatal Diagnosis 12:985-91, 1992.

Kaler SG, Garrity, AM, Stern HJ, Rosenbaum KN, et al.  New autosomal recessive syndrome of sparse hair, osteopenia and mental retardation in Mennonite sisters. American Journal Medical Genetics 43:983-988, 1992.

Carmi R, Boughman JA, Rosenbaum KN. Human situs determination is probably controlled by several different genes.  American Journal Medical Genetics 44:246-249, 1992.

Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KN. Mosaic 5p tetrasomy. American Journal Medical Genetics 45:774-776, 1993.

Saal HM, Samango-Sprouse CA, Rodnan LA, Rosenbaum KN, et al. Brachmann-deLange syndrome with normal IQ. American Journal Medical Genetics 47:995-998, 1993.

Benya EC, Bulas DI, Selby DM, Rosenbaum KN. Cystic sonographic appearance of extra-lobar pulmonary sequestrations. Pediatric Radiology 23: 605-607, 1993.

Rais-Bahrami K, MacDonald MG, Eng GD, Rosenbaum KN. Persistent pulmonary hypertension in newborns with congenital myotonic dystrophy. Journal of Pediatrics 124:634-635, 1994.

Bulas DI, Stern HJ, Rosenbaum KN, Fonda J, Glass RB, Tifft C. Variable prenatal appearance of osteogenesis imperfecta. J Ultrasound Med 13:419-427, 1994.

Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, StengeI-Rutkowski S, Rosenbaum K, Meinecke P, et al. Further delineation of the branchio-oculo-facial syndrome. American Journal of Medical Genetics 56:42-59, 1995.

Koenekoop RK, Rosenbaum KN, Traboulsi El. Ocular findings in a family with Sotos syndrome (cerebral gigantism). Am J Ophthalmology 119:657-658, 1995.

Glass RB, Rosenbaum KN. Frontometaphyseal dysplasia: neonatal radiographic diagnosis. American Journal of Medical Genetics 57:1-5, 1995.

Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. American Journal of Medical Genetics 57:573-578, 1995.

Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K. Detection of a subtle rearrangement of chromosome 22 using molecular techniques. American Journal of Medical Genetics 58:389-394, 1995.

Cohen MS, Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ Rosenbaum KN. Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings. American Journal of Medical Genetics 60:535-540, 1995.

Glass RB, Rosenbaum KN. Acampomelic campomelic dysplasia: further radiographic variations. American Journal of Medical Genetics 69:29-32, 1997.

Lesperance MM, Grundfast KM, Rosenbaum KN. Otologic manifestations of Wolf-Hirschhorn syndrome. Arch Otolaryngol Head Neck Surg 124:193-196, 1998.

Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum, KN, Weaver DD, Murray JC.  Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndroime.  American Journal Medical Genetics 91:387-90, 2000.

Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum KN, Pauli RM, Weber J, Biesecker LG.  Detection of chromosomal aberrations by a whole-genome microsatellite screen. American Journal Human Genetics 66:419-27, 2000.

Custer DA, Vezina LG, Vaught DR, Brasseux C, Samango-Sprouse CA, Cohen MS, Rosenbaum KN.  Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children.  J Dev Behav Pediatr. 21: 12-18, 2000.

Rosenbaum KN, Beck RB, Byers PH and Perry LW.  Penicillamine embryopathy.  In preparation.

Rosenbaum KN, Valle D, Golladay S, et al. Sacrococcygeal teratoma in the VATER association. To be submitted to the Journal of Pediatrics.

Samango-Sprouse CA, Saal HM, Stern HJ, Malionek J, and Rosenbaum KN Neurodevelopmental abnormalities in young children with neurofibromatosis type 1. In preparation.

Rosenbaum KN, Johnson DL, Fitz CR, and McCullough DC. Tethered cord in Rubinstein-Taybi syndrome. In preparation.

Chapters:

Rosenbaum KN: Genetics and Dysmorphology in Kelalis PP, King LR, and Belman AB, editors: Clinical Pediatric Urology, Second Edition, W.B. Saunders Co., Philadelphia, 1984.

Rosenbaum KN: Genetics and Dysmorphology in Welch KJ, Randolph JG, Ravitch MM, et. al, editors: Pediatric Surqery, Second Edition, Yearbook, Chicago, 1985.

Katz NNK, Rosenbaum KN and Filling-Katz MR. The Rubinstein-Taybi Syndrome in Gold D: The Eye In Systemic Disease. J.B. Lippincott Company, Philadelphia, 1990.

Rosenbaum KN. Genetics and Dysmorphology in Kelalis PP, King LR and Belman AB editors: Clinical Pediatric Urology, Third edition, W.B. Saunders Company, Philadelphia, 1991.