Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

American Journal of Medical Genetics, Part A

Volumn 143, Issue 3, 2007, Pages 277-284

  Castori, Marco ^a,b   Douzgou, Sofia ^a,b   Silvestri, Evelina ^c   Encha Razavi, Férechté ^d   Dallapiccola, Bruno ^a,b,e  

^a IRCCS FONDAZIONE BIETTI   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c SAN GIOVANNI ADDOLORATA HOSPITAL   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Blastogenesis; Developmental field defect; Etiological heterogeneity; Holoprosencephaly; Hypothalamic hamartoma; Sequence

Indexed keywords

ANOPHTHALMIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLASTOMA; BRAIN DEVELOPMENT; BRAIN MALFORMATION; BRAIN STEM; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; EAR MALFORMATION; ENVIRONMENTAL FACTOR; EXPOSURE; FACE ASYMMETRY; FETAL TUMOR; FETUS; FOREBRAIN; GENE MUTATION; HEREDITY; HOLOPROSENCEPHALY DIENCEPHALIC HAMARTOBLASTOMA; HUMAN; LETHALITY; LUNG HYPOPLASIA; MANDIBLE HYPOPLASIA; MENINX; POSTERIOR FOSSA; PRIORITY JOURNAL; RHOMBENCEPHALON; RIB MALFORMATION; TERATOGENESIS; URINARY TRACT MALFORMATION; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; BRAIN DISEASES; FEMALE; FETAL DISEASES; HAMARTOMA; HOLOPROSENCEPHALY; HUMANS; PREGNANCY;

EID: 33846815360     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31591     Document Type: Article

References (44)

1. Akman CI, Schubert R, Duran M, Loh J. 2002. Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: Clinical report. J Child Neurol 17:152-154.
2. Alikchanov AA, Petrukhin AS, Mukhin KY, Nikanorov AY. 1998. Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: A new association. Brain Dev 20:239-241.
3. Anyane-Yeboa K, Collins M, Kupsky W, Maidman J, Malin J, Yeh M. 1987. Hydrolethalus (Salonen-Herva-Norio) syndrome: Further clinicopathological delineation. Am J Med Genet 26:899-907.
4. Bach C, Bitan A, Jolly G, Grange G. 1969. Precocious puberty with tumor of the diencephalon. Association with the Dandy-Walker syndrome and dysraphic anomalies. Ann Pediatr (Paris) 16:762-767.
5. Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. 1996. Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet 65:76-81.
6. Bohring A, Lewin SO, Reynolds JF, Voigtlander T, Rittinger O, Carey JC, Kopernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. 1999. Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet 87:99-114.
7. Booth TN, Timmons C, Shapiro K, Rollins NK. 2004. Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts. AJNR Am J Neuroradiol 25:1283-1285.
8. Cohen MM Jr. 1989. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
9. Cohen MM Jr. 2003. The hedgehog signaling network. Am J Med Genet Part A 123A:5-28.
10. Durkin-Stamm MV, Gilbert EF, Ganick DJ, Opitz JM. 1978. An unusual dysplasia-malformation-cancer syndrome in two patients. Am J Med Genet 1:279-289.
11. Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N. 1992. Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form. Am J Med Genet 42:44-50.
12. Gitlin G, Behar AJ. 1960. Meningeal angiomatosis, arhinencephaly, agenesis of the corpus callosum and large hamartoma of the brain, with neoplasia, in an infant having bilateral nasal proboscis. Acta Anat (Basel) 41:56-79.
13. Goda M, Tashima A, Isono M, Hori S, Kimba Y. 1999. A case of hypothalamic hamartoma associated with arachnoid cyst. Childs Nerv Syst 15:490-492.
14. Golabi M, Kuller J, Cox K, Keilman K, Schonberg S. 1991. Pallister-Hall syndrome associated with unbalanced chromosome translocation. Am J Med Genet 49(Suppl):137 [Abstact].
15. Gorlin RJ, Cohen MM Jr, Hennekam RCM. 2001. Syndromes of the Head and Neck, 4th edition. New York: Oxford University Press.
16. Gulati S, Gera S, Menon PS, Kabra M, Kalra V. 2002. Hypothalamic hamartoma, gelastic epilepsy, precocious puberty - a diffuse cerebral dysgenesis. Brain Dev 24:784-786.
17. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD. 1980. 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.
18. Hamon-Kerautret M, Ares GS, Demondion X, Rouland V, Francke JP, Pruvo JP. 1998. Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma. Pediatr Radiol 28:290-292.
19. Hennekam RC, Beemer FA, Van Merrienboer F, Van Ketel BA, Kramer PP. 1986. Congenital hypothalamic hamartoma associated with severe midline defect: A developmental field defect. Report of a case. Am J Med Genet Suppl 2:45-52.
20. Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. 1989. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Am J Med Genet 33:489-499.
21. Isaka T, Nakatani S, Yoshimine T, Akai F, Taneda M. 1996. Asymptomatic hypothalamic hamartoma associated with an arachnoid cyst-case report. Neurol Med Chir (Tokyo) 36:725-728.
22. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. 2005. 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.
23. Kizilkilic O, Yalcin O, Yildirim T, Sener L, Parmaksiz G, Erdogan B. 2005. Hypothalamic hamartoma associated with a craniopharyngeal canal. AJNR Am J Neuroradiol 26:65-67.
24. Kuller JA, Cox VA, Schonberg SA, Golabi M. 1992. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet 43:647-650.
25. Marcuse PM, Burger RA, Salmon GW. 1953. Hamartoma of the hypothalamus; report of two cases with associated developmental defects. J Pediatr 43:301-308.
26. Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L. 2005. Hydrolethalus syndrome is caused by missense mutation in a novel gene HYLS1. Hum Mol Genet 14:1475-1488.
27. Mocco J, Lozier AP, Komotar RJ, Silver AJ, Feldstein NA. 2005. Hypothalamic hamartoma in association with a suprasellar arachnoid cyst: a case report. Pediatr Neurosurg 41:105-108.
28. Nishio S, Morioka T, Hamada Y, Kuromaru R, Fukui M. 2001. Hypothalamic hamartoma associated with an arachnoid cyst. J Clin Neurosci 8:46-48.
29. Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E. 2002. Defects of blastogenesis. Am J Med Genet 115:269-286.
30. Ribeiro LA, Richieri-Costa A. 2005. Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. Am J Med Genet Part A 136A:346-347.
31. Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. 2005. Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation. Am J Med Genet Part A 136A:390-394.
32. Rosen Z, Gitlin G. 1959. Bilateral nasal proboscis associated with unilateral anophthalmia, unilateral diffuse pigmentation of the conjunctiva, and anomalies of the skull and brain. Arch Otolaryngol 70:545-550.
33. Rossiter JP, Khalifa MM, Nag S. 2000. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: A possible new syndrome. Acta Neuropathol (Berl) 99:685-690.
34. Ryals BD, Brown DC, Levin SW. 1993. Duplication of the pituitary gland as shown by MR. AJNR Am J Neuroradiol 14:137-139.
35. Salonen R, Herva R. 1990. Hydrolethalus syndrome. J Med Genet 27:756-759.
36. Salonen R, Paavola P. 1998. Meckel syndrome. J Med Genet 35:497-501.
37. Saxonhouse MA, Yachnis AT, Burchfield DJ, Quisling R, Sullivan MP, Pincus DW. 2005. Neonatal hypothalamic hamartoma: A differentiating nonlethal hamartoblastoma. J Neurosurg 103(suppl 3):277-281.
38. Tsugu H, Fukushima T, Nagashima T, Utsunomiya H, Tomonaga M, Mitsudome A. 1998. Hypothalamic hamartoma associated with multiple congenital abnormalities. Two patients and a review of reported cases. Pediatr Neurosurg 29:290-296.
39. Turjman F, Xavier JL, Froment JC, Tran-Minh VA, David L, Lapras C. 1996. Late MR follow-up of hypothalamic hamartomas. Childs Nerv Syst 12:63-68.
40. Vandenhaute B, Leteurtre E, Lecomte-Houcke M, Pellerin P, Nuyts JP, Cuisset JM, Soto-Ares G. 2000. Epignathus teratoma: Report of three cases with a review of the literature. Cleft Palate Craniofac J 37:83-91.
41. Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer L. 1992. 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.
42. Verloes A, Narcy F, Fallet-Bianco C. 1995. Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and mullerian regression: Further delineation of a new syndrome? Clin Dysmorphol 4:33-37.
43. Winter RM, Baraitser M. 2005. London Dysmorphology Database. Bushey: London Medical Database Ltd.
44. Winter WE, Rosenbloom AL, Maclaren NK, Mickle JP. 1982. Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma. J Pediatr 101:965-967.