{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:53Z","timestamp":1761718073634,"version":"build-2065373602"},"reference-count":24,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,8]]},"abstract":"<jats:p>We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly, and nail hypoplasia. Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. The radiological abnormalities are helpful in differentiating Pallister-Hall syndrome from the other syndromes in which hypothalamic hamartoblastoma is observed. This is of major importance for genetic counselling, since Pallister-Hall syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.<\/jats:p>","DOI":"10.1136\/jmg.32.8.605","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"605-611","source":"Crossref","is-referenced-by-count":32,"title":["Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands."],"prefix":"10.1136","volume":"32","author":[{"given":"A","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Ng\u00f4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Bottani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,8,1]]},"reference":[{"key":"ref_1","first-page":"47","article-title":"Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - a new syndrome? Part 1: clinical, causal and pathogenic considerations","volume":"7","author":"Hall, J.G.; Pallister, P.D.; Clarren, S.K.; Beckwith, J.B.; Wiglesworth, F.W.","year":"1980","unstructured":"Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - a new syndrome? Part 1: clinical, causal and pathogenic considerations. AmJMed Genet 1980;7:47-74.","journal-title":"AmJMed Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/ajmg.1320330416","article-title":"Case report and delineation of the congenital hypothalamic syndrome). hamartoblastoma syndrome (Pallister-Hall","volume":"33","author":"Iafolla, K.; Fratkin, J.D.; Spiegel, P.K.; Cohen, M.M.J.; Graham, J.M.J.","year":"1989","unstructured":"Iafolla K, Fratkin JD, Spiegel PK, Cohen MMJ, Graham JMJ. Case report and delineation of the congenital hypothalamic syndrome). hamartoblastoma syndrome (Pallister-Hall Am J Med Genet 1989;33:489-99.","journal-title":"Am J Med Genet"},{"key":"ref_3","first-page":"669","article-title":"Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of (CAVE) multiplex styhendcreormeeb.roAacmrovJisMceerdalGeenaerlty lethality","volume":"43","author":"Verloes, A.; Gillerot, Y.; Langhendries, J.P.; Fryns, J.P.; Koulischer, L.","year":"1992","unstructured":"Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer L. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of (CAVE) multiplex styhendcreormeeb.roAacmrovJisMceerdalGeenaerlty lethality 1992;43: 669-77."},{"key":"ref_4","first-page":"433","article-title":"Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and porsyncehwomsoytnodrrormetea?rdJatMieond: variant of the Mohr syndrome Genet","volume":"20","author":"Mattei, J.F.; Ayme, S.","year":"1983","unstructured":"Mattei JF, Ayme S. Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and porsyncehwomsoytnodrrormetea?rdJatMieond: variant of the Mohr syndrome Genet 1983;20:433-5."},{"key":"ref_5","first-page":"88","volume":"25","author":"M, Le Merrer; ML, Briard; S, Girard","year":"1988","unstructured":"Le Merrer M, Briard ML, Girard S, et al. Lethal acrSomdiytshg-eLneitmalli-Odpwiatrzfissym:ndraomele.thJaflMecdondGietnieotn resembling 1988;25:88-95.","journal-title":"Lethal acrSomdiytshg-eLneitmalli-Odpwiatrzfissym:ndraomele.thJaflMecdondGietnieotn resembling"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJM199401133300205","article-title":"Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome","volume":"330","author":"Tint, G.S.; Irons, M.; Elias, E.R.","year":"1994","unstructured":"Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl _J Med 1994;330:107-13.","journal-title":"N Engl _J Med"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ajmg.1320470402","article-title":"Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins","volume":"47","author":"Cleper, R.; Kauschansky, A.; Varsano, I.; Frydman, M.","year":"1993","unstructured":"Cleper R, Kauschansky, A, Varsano I, Frydman M. Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. Am Jf Med Genet 1993;47:451-5.","journal-title":"Am Jf Med Genet"},{"key":"ref_8","first-page":"943","article-title":"Autosomal dominant transmission of the PallisterHall syndrome","volume":"123","author":"Topf, K.F.; Kletter, G.B.; Kelch, R.P.; Brunberg, J.A.; Biesecker, L.G.","year":"1993","unstructured":"Topf KF, Kletter GB, Kelch RP, Brunberg JA, Biesecker LG. Autosomal dominant transmission of the PallisterHall syndrome. J7 Pediatr 1993;123:943-6."},{"key":"ref_9","first-page":"301","article-title":"Autosomal dominant transmission of Pallister-Hall syndrome","volume":"3","author":"M, Penman Splitt; C, Wright; R, Perry; J, Burn","year":"1994","unstructured":"Penman Splitt M, Wright C, Perry R, Burn J. Autosomal dominant transmission of Pallister-Hall syndrome. Clin Dysmorphol 1994;3:301-8.","journal-title":"Clin Dysmorphol"},{"key":"ref_10","first-page":"138","article-title":"Longterm survival in Pallister-Hall syndrome","volume":"49","author":"Greenhaw, G.; Orlander, P.; Langford, L.; Horton, W.","year":"1991","unstructured":"Greenhaw G, Orlander P, Langford L, Horton W. Longterm survival in Pallister-Hall syndrome. Am Jf Hum Genet (Suppl) 1991;49:138.","journal-title":"Am Jf Hum Genet (Suppl)"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/ajmg.1320470305","article-title":"Familial Pallister-Hall syndrome: case report and hormonal evaluation","volume":"47","author":"Sills, I.; Rapaport, R.; Robinson, L.P.","year":"1993","unstructured":"Sills I, Rapaport R, Robinson LP, et al. Familial Pallister-Hall syndrome: case report and hormonal evaluation. Am Jf Med Genet 1993;47:321-5.","journal-title":"Am Jf Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1001\/archpedi.1990.02150260105040","article-title":"Hypothalamic hamartoma and sexual precocity","volume":"144","author":"Starceski, P.J.; Lee, P.A.; Albright, A.L.; Migeon, C.J.","year":"1990","unstructured":"Starceski PJ, Lee PA, Albright AL, Migeon CJ. Hypothalamic hamartoma and sexual precocity. 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Am Jf Med Genet 1992;43:647-50.","journal-title":"Am Jf Med Genet"},{"key":"ref_15","first-page":"145","article-title":"Recurrence of Pallister-Hall syndrome in two sibs","volume":"51","author":"Thomas, H.M.; Todd, P.J.; Heaf, D.; Fryer, A.E.","year":"1994","unstructured":"Thomas HM, Todd PJ, Heaf D, Fryer AE. Recurrence of Pallister-Hall syndrome in two sibs. Am Jf Med Genet 1994;51: 145-7.","journal-title":"Am Jf Med Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.1320520231","article-title":"Familial Pallister-Hall syndrome: three affected offspring","volume":"52","author":"Sills, I.N.; Rapaport, R.; Desposito, F.; Lieber, C.","year":"1994","unstructured":"Sills IN, Rapaport R, Desposito F, Lieber C. Familial Pallister-Hall syndrome: three affected offspring. Am J Med Genet 1994;52:251.","journal-title":"Am J Med Genet"},{"key":"ref_17","first-page":"287","article-title":"A complex bilateral polysyndactyly disease locus maps to chromosome 7q36","volume":"6","author":"Tsukurov 0, Boehmer A, Flynn J","year":"1994","unstructured":"Tsukurov 0, Boehmer A, Flynn J, et al. A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nature Genet 1994;6:287-92.","journal-title":"Nature Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/ng0394-287","article-title":"The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q","volume":"6","author":"Heutink, P.; Zguricas, J.; van Oosterhout, L.","year":"1994","unstructured":"Heutink P, Zguricas J, van Oosterhout L, et al. The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nature Genet 1994;6:287-92.","journal-title":"Nature Genet"},{"key":"ref_19","article-title":"Congenital malformations: notes and comments","author":"Warkany, J.","year":"1971","unstructured":"Warkany J. Congenital malformations: notes and comments. Chicago: Year Book Medical Publisher, 1971."},{"key":"ref_20","first-page":"45","article-title":"Congenital hypothalamic hamartoblastoma associated with severe midline defect: a developmental field defect","volume":"2","author":"Hennekam, R.C.M.; Beemer, F.A.; Van Merrienboer, F.; Van Ketel, B.A.; Kramer, P.P.G.","year":"1986","unstructured":"Hennekam RCM, Beemer FA, Van Merrienboer F, Van Ketel BA, Kramer PPG. Congenital hypothalamic hamartoblastoma associated with severe midline defect: a developmental field defect. 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Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and Miullerian regression. Further delineation of a new syndrome? Clin Dysmorphol 1995; 4:33-7.","journal-title":"Clin Dysmorphol"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/ajmg.1320420111","article-title":"Congenital hypothalamic hamartoma syndrome. Nosological discussion and minimum diagnostic criteria of a possible familial form","volume":"42","author":"Encha-Razavi, F.; Larroche, J.C.; Roume, J.","year":"1992","unstructured":"Encha-Razavi F, Larroche JC, Roume J, et al. Congenital hypothalamic hamartoma syndrome. Nosological discussion and minimum diagnostic criteria of a possible familial form. Am Jf Med Genet 1992;42:44-50.","journal-title":"Am Jf Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1111\/j.1651-2227.1986.tb10271.x","article-title":"Precocious puberty associated with oral-facial-digital syndrome type 1","volume":"75","author":"Somer, M.; Lindahl, E.; Perheentupa, J.","year":"1986","unstructured":"Somer M, Lindahl E, Perheentupa J. Precocious puberty associated with oral-facial-digital syndrome type 1. 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