Bibliography

This is a brief list of papers published in the medical-scientific literature on the topic of Pallister-Hall syndrome and related disorders. Editorial comments follow each reference in italics. It is important to note that the medical and scientific understanding of these disorders is changing rapidly. For this reason, you may read statements in one paper that are directly contradicted by another paper. Beyond this, it is possible that current understanding may change, with the result that statements in the most recent papers may be altered in the future. The best course of action is to find a personal physician who is willing to interpret these papers in the context of your unique situation (see PHS support group for more information).

The comments in italics below each article are the opinion of the author and do not necessarily reflect the policy or position of the National Insititutes of Health, The Pallister-Hall family support group or any other organization to which the editor is affiliated. If you have suggestions about additions or changes to this list, please contact Leslie Biesecker.

Albright AL, Lee PA. Hypothalamic hamartomas and sexual precocity. Pediatric Neurosurgery 1992; 18:315-9. [Entrez]

Describes some of the neurologic features of hamartomas and the most common endocrine (hormone) complications of hamartomas.

Baraitser M, Winter RM, Brett EM. Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet 1983; 24:257-265. [Entrez]

Describes inherited Greig syndrome, another disorder that is caused by mutations in the GLI3 gene, the same gene that has been shown to be altered in Pallister-Hall syndrome.

Biesecker, LG. Strike three for GLI3. Nature Genet 1997; 17:259-60. [Entrez]

An opinion piece on the relationship between Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome and PAP-A.

Biesecker LG, Abbott M, Allen J, et al. Report from the workshop on Pallister-Hall syndrome and related disorders. Am J Med Genet 1996; 65:76-81. [Entrez]

Describes the clinical diagnostic criteria for Pallister-Hall syndrome and the recommended evaluation for persons who are, or are suspected to be affected by Pallister-Hall. It is the source for the diagnostic criteria table, and for the tables describing the recommended workup of patients and parents.

Breningstall GN. Gelastic seizures, precocious puberty, and hypothalamic hamartoma. Neurology 1985; 35:1180-3. [Entrez]

Describes some of the neurologic complications of hypothalamic hamartomas.

Clarren SK, Alvord EC, Hall JG. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-A new syndrome? Part II: Neuropathological considerations. Am J Med Genet 1980; 7:75-83. [Entrez]

This paper is part two of the pair of articles that are credited with the first complete description of Pallister-Hall syndrome. It focuses on the neuropathologic features of the severe cases of the disorder.

Culler FL, Jones KL. Hypopituitarism in association with postaxial polydactyly. J Pediatr 1984; 104:881-4. [Entrez]

A report of a sporadic (individual) case of Pallister-Hall syndrome.

Duncan PA, Klein RM, Wilmot PL, Shapiro LR. Greig cephalopolysyndactyly syndrome. Am J Dis Child 1979; 133:818-821. [Entrez]

A review of the clinical features of Greig cephalopolysyndactyly syndrome.

Encha-Rezavi F, Larroche JC, Roume J, et al. Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form. Am J Med Genet 1992; 42:44-50. [Entrez]

A report of a case that appears quite similar to Pallister-Hall syndrome. It may not be Pallister-Hall but another disorder that is very similar.

Finnigan DP, Clarren SK, Haas JE. Extending the Pallister-Hall syndrome to include other central nervous system malformations. Am J Med Genet 1991; 40:395-400. [Entrez]

This paper describes some brain abnormalities other than hypothalalmic hamartomas that are seen in patients that appear to have Pallister-Hall syndrome. It is possible that they may have another closely related disorder.

Goldenberg JD, Holinger LD, Bressler FJ, Hutchinson LR. Bifid epiglottis. Ann Otol Rhinol Laryngol 1996; 105:155-7. [Entrez]

This is a case report of an individual who appears to have Pallister-Hall syndrome although that diagnosis is not made by the authors. We have noted several case reports of patients in the ear nose and throat literature that appear to have undiagnosed Pallister-Hall syndrome.

Graham JM, Jr, Brown FE, Saunders RL, et al. Bifid epiglottis, hand abnormalities, and congenital hypopituitarism. Lancet 1985; 2:443. [Entrez]

Case descriptions of Pallister-Hall syndrome, focusing on the bifid epiglottis.

Graham JM, Jr, Harris M, Frank JE, Little GA, Klein RZ. Congenital hypothalamic hamartoblastoma syndrome: Natural history and genetic implications. Prog Clin Biol Res 1985:163-74. [Entrez]

One of the earliest case reports suggesting that Pallister-Hall Syndrome is not uniformly lethal in early childhood.

Graham JM, Jr, Saunders R, Fratkin J, Spiegel P, Harris M, Klein RZ. A Cluster of Pallister-Hall cases, (Congenital hypothalamic hamartoblastoma syndrome). Am J Med Genet 1986; Supp 2:53-63. [Entrez]

These two articles describe interesting findings and discuss possible causes of the disorder. The first description of a possibly inherited form.

Grebe TA, Clericuzio C. Autosomal dominant inheritance of a hypothalamic hamartoma associated with polysyndactyly: Heterogeneity or variable expressivity? Am J Med Genet 1996; 66:129-137. [Entrez]

This paper describes the first large, autosomal dominant family with Pallister-Hall syndrome. This is one of the families analyzed in the linkage study described below.

Hall JG, Pallister SK, Clarren SK, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-A new syndrome? Part I: Clinical, causal, and pathogenetic considerations. Am J Med Genet 1980; 7:47-74. [Entrez]

This is the original paper credited with the complete description of Pallister-Hall syndrome. Although there has subsequently been disocovered to be previously described cases, this is the deifinitive paper that recognized the disorder as a distinct syndrome.

Hingorani SR, Pagon RA, Shepard TH, Kapur RP. Twin fetuses with abnormalities that overlap three midline malformation complexes. Am J Med Genet 1991; 41:230-5. [Entrez]

This paper describes fetuses who have features of Pallister-Hall syndrome and other disorders as well. A good example of how difficult it can be to assign a diagnosis in some cases.

Huff DS, Fernandes M. Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital abnormalities (Pallister-Hall syndrome). N Engl J Med 1982; 306:430-1. [Entrez]

A letter to the New England Journal describing additional patients with Pallister-Hall Syndrome.

Iafolla K, Fratkin JD, Spiegel PK, Cohen MM, Jr , Graham JM, Jr. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Am J Med Genet 1989; 33:489-99. [Entrez]

A case report and review of the current knowledge of Pallister-Hall Syndrome in 1989.

Kang S, Graham JM, Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet 1997; 15:266-268. [Entrez]

Describes mutations in the GLI3 gene that cause familial Pallister-Hall syndrome in two small families.

Kang S, Alen J, Graham JM, Jr., et al. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet 1997; 34:441-446. [Entrez]

This paper describes the features of a large family with Pallister-Hall and localizes the gene to the short arm of chromosome 7.

Kuller JA, Cox VA, Schonberg SA, Golabi M. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet 1992; 43:647-50. [Entrez]

This case report includes a patient that has some similarities to Pallister-Hall but is not typical. The chromosomal abnormality on chromosome 7 in this patient is in a different place than the gene that is known to cause familial Pallister-Hall syndrome. It makes the point that there are probably several genes or chromosomal segments that can cause a phenotype that is difficult to distinguish from Pallister-Hall sydnrome.

Low M, Moringlane JR, Reif J, et al. Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of the Pallister-Hall syndrome. Clin Genet 1995; 48:208-212. [Entrez]

A case report describing what we would now consider to be typical familial Pallister-Hall syndrome.

Marcuse PM, Burger RA, Salmon GW. Hamartoma of the hypothalamus.Report of two cases with associated developmental defects. J Pediatr 1953; 43:301-8.

This case report predates the paper by Dr. Hall and colleagues. It is not credited as being the "original" description of the syndrome because it was not made clear that the two patients are different from each other and that the one that clearly has Palllister-Hall syndrome should be regarded as a distinct syndrome.

McClay JE, Wiatrak B, Proud V. Bifid epiglottis and polydactyly: A new syndrome. Otolaryngol Head Neck Surg 1997; 116:129-133. [Entrez]

This paper describes a "new" syndrome that appears to be no different from Pallister-Hall syndrome.

Muenke M, Ruchelli ED, Rorke LB, et al. On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet 1991; 41:548-556. [Entrez]

This paper describes a number of patients who have features that overlap with Pallister-Hall syndrome. It highlights the difficulty that can be encountered with some patients.

Neri G, Gurrieri F, Genuardi M. Oral-Facial-Skeletal syndromes. Am J Med Genet 1995; 59:365-368. [Entrez]

This editorial groups some of the syndromes that are related to Pallister-Hall syndrome.

Pallister PD, Hecht F, Herrman J. Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. Am J Med Genet 1989; 33:500-1. [Entrez]

Several sporadic cases of Pallister-Hall written by one of the doctors who originally reported the syndrome.

Penman Splitt M, Wright C, Perry R, Burn J. Autosomal dominant transmission of the Pallister-Hall syndrome. Clin Dysmorphol 1994; 3:301-308. [Entrez]

An early case report of the inherited form of Pallister-Hall Syndrome.

Radhakrishna U, Blouin J-L, Mehenni H, et al. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 1997; 60:597-604. [Entrez]

A disorder that overlaps with Pallister-Hall Syndrome in that it apparently has only an extra digit on the little finger side of the hand. In addition, it is also caused by a mutation in the same gene that causes Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome.

Radhakrishna U, Wild A, Grzeschik K-H, Antonarakis A. Mutation in GLI3 in postaxial polydactyly type A. Nature Genet 1997; 17:269-71. [Entrez]

Describes the mutation found in GLI3 in the family described above.

Sama A, Mason JD, Gibbin KP, Young ID, Hewitt M. Familial Pallister-Hall syndrome. J Med Genet 1994; 31:740. [Entrez]

An additional case report of the inherited form of the disorder.

Sills IN, Rapaport R, Robinson P, et al. Familial Pallister-Hall syndrome: Case report and hormonal evaluation. Am J Med Genet 1993; 47:321-5. [Entrez]

One of the early case reports of familial Pallister-Hall syndrome.

Stephan MJ, Brooks KL, Moore DC, Coll EJ, Goho C. Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Varadi syndrome). Am J Med Genet 1994; 51:131-6. [Entrez]

Another paper describing potential overlap between Pallister-Hall and a similar disorder.

Thomas HM, Todd PJ, Heaf D, Fryer AE. Recurrence of Pallister-Hall syndrome in two sibs. J Med Genet 1994; 31:145-7. [Entrez]

An additional case of inherited Pallister-Hall syndrome. A good example of how mildly affected a parent can be.

Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG. Autosomal dominant transmission of the Pallister-Hall syndrome. J Pediatr 1993; 123:943-946. [Entrez]

The first paper to unambiguously determine that the disorder can be inherited.

Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I. Pallister-Hall syndrome and McKusick-Kaufmann sydnrome: one entity? J Med Genet 1995; 32:125-8. [Entrez]

This paper shows potential overlap with another disorder, the McKusick-Kaufmann syndrome.

Verloes A, David A, Ngo L, Bottani A. Stringent delineation of Pallister-Hall syndrome in two long-surviving patients: importance of radiologic anomalies of the hands. J Med Genet 1995; 32:605-611. [Entrez]

This paper applies an objective approach to the separation of Pallister-Hall syndrome from other disorders.