OMIM Entry – # 146510 – PALLISTER-HALL SYNDROME; PHS

Posted: July 26, 2018 at 11:40 pm

Biesecker, L. G., Abbott, M., Allen, J., Clericuzio, C., Feuillan, P., Graham, J. M., Jr., Hall, J., Kang, S., Olney, A. H., Lefton, D., Neri, G., Peters, K., Verloes, A. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am. J. Med. Genet. 65: 76-81, 1996. [PubMed: 8914745] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=65&issue=1&spage=76%5D

Biesecker, L. G., Kang, S., Schaffer, A. A., Abbott, M., Kelley, R. I., Allen, J. C., Clericuzio, C., Grebe, T., Olney, A., Graham, J. M., Jr. Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. J. Med. Genet. 33: 947-951, 1996. [PubMed: 8950676] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=8950676%5D

Clarren, S. K., Alvord, E. C., Jr., Hall, J. G. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly–a new syndrome? Part II: neuropathological considerations. Am. J. Med. Genet. 7: 75-83, 1980. [PubMed: 7211954] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1980&volume=7&issue=1&spage=75%5D

Demurger, F., Ichkou, A., Mougou-Zerelli, S., Le Merrer, M., Goudefroye, G., Delezoide, A.-L., Quelin, C., Manouvrier, S., Baujat, G., Fradin, M., Pasquier, L., Megarbane, A., and 40 others. New insights into genotype-phenotype correlation for GLI3 mutations. Europ. J. Hum. Genet. 23: 92-102, 2015. [PubMed: 24736735] [Full Text: https://dx.doi.org/10.1038/ejhg.2014.62%5D

Donnai, D., Burn, J., Hughes, H. Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (Letter) Am. J. Med. Genet. 28: 741-743, 1987. [PubMed: 3425639] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=28&issue=3&spage=741%5D

Finnigan, D. P., Clarren, S. K., Haas, J. E. Extending the Pallister-Hall syndrome to include other central nervous system malformations. Am. J. Med. Genet. 40: 395-400, 1991. [PubMed: 1746599] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=40&issue=4&spage=395%5D

Galasso, C., Scire, G., Fabbri, F., Spadoni, G. L., Killoran, C. E., Biesecker, L. G., Boscherini, B. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am. J. Med. Genet. 99: 128-131, 2001. [PubMed: 11241471] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=99&issue=2&spage=128%5D

Graham, J. M., Perl, D., O’Keefe, T., Rawnsley, E., Little, G. A. Apparent familial recurrence of hypothalamic hamartoblastoma syndrome. (Abstract) Proc. Greenwood Genet. Center 2: 117-118, 1983.

Hall, J. G., Pallister, P. D., Clarren, S. K., Beckwith, J. B., Wiglesworth, F. W., Fraser, F. C., Cho, S., Benke, P. J., Reed, S. D. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly–a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am. J. Med. Genet. 7: 47-74, 1980. [PubMed: 7211952] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1980&volume=7&issue=1&spage=47%5D

Huff, D. S., Fernandes, M. Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome). (Letter) New Eng. J. Med. 306: 430-431, 1982. [PubMed: 7057839] [Full Text: http://www.nejm.org/doi/abs/10.1056/NEJM198202183060719?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed%5D

Iafolla, K., Fratkin, J. D., Spiegel, P. K., Cohen, M. M., Jr., Graham, J. M., Jr. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Am. J. Med. Genet. 33: 489-499, 1989. [PubMed: 2688416] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=4&spage=489%5D

Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., Abbott, M. H., Aughton, D. J., Aylsworth, A. S., Bamshad, M. J., Booth, C., Curry, C. J., and 36 others. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am. J. Hum. Genet. 76: 609-622, 2005. [PubMed: 15739154] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62872-9%5D

Kang, S., Allen, J., Graham, J. M., Jr., Grebe, T., Clericuzio, C., Patronas, N., Ondrey, F., Green, E., Schaffer, A., Abbott, M., Biesecker, L. G. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J. Med. Genet. 34: 441-446, 1997. [PubMed: 9192261] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=9192261%5D

Kang, S., Graham, J. M., Jr., Abbott, M., Schaffer, A., Green, E. D., Rosenberg, M., Allen, J., Clericuzio, C., Grebe, T., Haskins-Olney, A., Biesecker, L. G. Autosomal dominant Pallister-Hall syndrome maps to 7p13. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A17 only, 1996.

Kang, S., Graham, J. M., Jr., Olney, A. H., Biesecker, L. G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet. 15: 266-268, 1997. [PubMed: 9054938] [Full Text: https://dx.doi.org/10.1038/ng0397-266%5D

Killoran, C. E., Abbott, M., McKusick, V. A., Biesecker, L. G. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin. Genet. 58: 28-30, 2000. [PubMed: 10945658] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2000&volume=58&issue=1&spage=28%5D

Kletter, G. B., Biesecker, L. G. Male-to-male transmission of the Pallister-Hall syndrome. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A100 only, 1992.

Kuller, J. A., Cox, V. A., Schonberg, S. A., Golabi, M. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am. J. Med. Genet. 43: 647-650, 1992. [PubMed: 1605268] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=43&issue=3&spage=647%5D

Low, M., Moringlane, J. R., Reif, J., Barbier, D., Beige, G., Kolles, H., Kujat, C., Zang, K. D., Henn, W. Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. Clin. Genet. 48: 209-212, 1995. [PubMed: 8591673] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1995&volume=48&issue=4&spage=209%5D

Lurie, I. W. Pallister-Hall and McKusick-Kaufmann syndromes. (Letter) J. Med. Genet. 32: 668-672, 1995. [PubMed: 7473667] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=7473667%5D

Lurie, I. W., Wulfsberg, E. A. The McKusick-Kaufmann syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. Genet. Counsel. 5: 275-281, 1994. [PubMed: 7811428]

Narumi, Y., Kosho, T., Tsuruta, G., Shiohara, M., Shimazaki, E., Mori, T., Shimizu, A., Igawa, Y., Nishizawa, S., Takagi, K., Kawamura, R., Wakui, F., Fukushima, Y. Genital abnormalities in Pallister-Hall syndrome: report of two patients and review of the literature. Am. J. Med. Genet. 152A: 3143-3147, 2010. [PubMed: 21108399] [Full Text: https://dx.doi.org/10.1002/ajmg.a.33720%5D

Ondrey, F., Griffith, A., Van Waes, C., Rudy, S., Peters, K., McCullagh, L., Biesecker, L. G. Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am. J. Med. Genet. 94: 64-67, 2000. [PubMed: 10982485] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=94&issue=1&spage=64%5D

Pallister, P. D., Hecht, F., Herrman, J. Three additional cases of the congenital hypothalamic ‘hamartoblastoma’ (Pallister-Hall) syndrome. (Letter) Am. J. Med. Genet. 33: 500-501, 1989. [PubMed: 2596511] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=4&spage=500%5D

Penman Splitt, M., Wright, C., Perry, R., Burn, J. Autosomal dominant transmission of Pallister-Hall syndrome. Clin. Dysmorph. 3: 301-308, 1994. [PubMed: 7894735]

Sama, A., Mason, J. D. T., Gibbin, K. P., Young, I. D., Hewitt, M. The Pallister-Hall syndrome. (Letter) J. Med. Genet. 31: 740 only, 1994. [PubMed: 7815447] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=7815447%5D

Say, B., Gerald, P. S. A new polydactyly–imperforate-anus–vertebral-anomalies syndrome? (Letter) Lancet 292: 688 only, 1968. Note: Originally Volume II. [PubMed: 4175523] [Full Text: https://linkinghub.elsevier.com/retrieve/pii/S0140-6736(68)92549-X%5D

Sills, I. N., Rapaport, R., Desposito, F., Lieber, C. Familial Pallister-Hall syndrome: three affected offspring. (Letter) Am. J. Med. Genet. 52: 251 only, 1994. [PubMed: 7802025] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=2&spage=251%5D

Sills, I. N., Rapaport, R., Robinson, L. P., Lieber, C., Shih, L. Y., Horlick, M. N. B., Schwartz, M., Desposito, F. Familial Pallister-Hall syndrome: case report and hormonal evaluation. Am. J. Med. Genet. 47: 321-325, 1993. [PubMed: 8135274] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=3&spage=321%5D

Stoll, C., de Saint Martin, A., Donato, L., Alembik, Y., Sauvage, P., Messer, J. Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. Genet. Counsel. 12: 231-235, 2001. Note: Erratum: Genet. Counsel. 13: 69 only, 2002. [PubMed: 11693785]

Thomas, H. M., Todd, P. J., Heaf, D., Fryer, A. E. Recurrence of Pallister-Hall syndrome in two sibs. J. Med. Genet. 31: 145-147, 1994. [PubMed: 8182722] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=8182722%5D

Topf, K. F., Kletter, G. B., Kelch, R. P., Brunberg, J. A., Biesecker, L. G. Autosomal dominant transmission of the Pallister-Hall syndrome. J. Pediat. 123: 943-946, 1993. [PubMed: 8229528]

Unsinn, K. M., Neu, N., Krejci, A., Posch, A., Menardi, G., Gassner, I. Pallister-Hall syndrome and McKusick-Kaufmann (sic) syndrome: one entity? J. Med. Genet. 32: 125-128, 1995. [PubMed: 7760322] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=7760322%5D

Verloes, A. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. Am. J. Med. Genet. 55: 433-443, 1995. [PubMed: 7762583] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=4&spage=433%5D

Verloes, A., David, A., Ngo, L., Bottani, A. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. J. Med. Genet. 32: 605-611, 1995. [PubMed: 7473651] [Full Text: http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=7473651%5D

Verloes, A., Gillerot, Y., Langhendries, J.-P., Fryns, J.-P., Koulischer, L. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am. J. Med. Genet. 43: 669-677, 1992. [PubMed: 1621756] [Full Text: http://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=43&issue=4&spage=669%5D

Verloes, A., Narcy, F., Fallet-Bianco, C. Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and mullerian regression: further delineation of a new syndrome? Clin. Dysmorph. 4: 33-37, 1995. [PubMed: 7735503]

Go here to read the rest:
OMIM Entry – # 146510 – PALLISTER-HALL SYNDROME; PHS

Related Post

Comments are closed.

Archives