Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2393-2406

  Tully, Hannah M ^a,b   Dempsey, Jennifer C ^c   Ishak, Gisele E ^c   Adam, Margaret P ^c   Curry, Cynthia J R ^d   Sanchez Lara, Pedro ^e,f   Hunter, Alasdair ^g   Gripp, Karen W ^h   Allanson, Judith ^g   Cunniff, Christopher ⁱ   Glass, Ian ^c   Millen, Kathleen J ^b,c   Doherty, Daniel ^b,c   Dobyns, William B ^b,c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f CHILDREN S HOSPITAL LOS ANGELES   (United States)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

ⁱ UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

Aventriculy; Congenital triangular alopecia; Developmental field defect; G mez L pez Hern ndez syndrome; Holoprosencephaly; Rhombencephalosynapsis; VACTERL

Indexed keywords

ADOLESCENT; ADULT; ALOPECIA; ANESTHESIA (SENSORY DYSFUNCTION); ANUS ATRESIA; ARTICLE; BONE DYSPLASIA; BRAIN MALFORMATION; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; FEMALE; GOMEZ LOPEZ HERNANDEZ SYNDROME; HOLOPROSENCEPHALY; HUMAN; INFANT; KIDNEY MALFORMATION; LIMB DEFECT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RHOMBENCEPHALOSYNAPSIS; SCHOOL CHILD; TRACHEOESOPHAGEAL FISTULA; TRIGEMINAL ANESTHESIA; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ALOPECIA; ANAL CANAL; CEREBELLAR DISEASES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; ESOPHAGUS; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HOLOPROSENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; NEUROCUTANEOUS SYNDROMES; PHENOTYPE; RHOMBENCEPHALON; SPINE; TRACHEA; YOUNG ADULT;

EID: 84866508735     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35561     Document Type: Article

References (54)

1. Armstrong DK, Burrows D. 1996. Congenital triangular alopecia. Pediatr Dermatol 13: 394-396.
2. Assouly P, Happle R. 2010. A hairy paradox: Congenital triangular alopecia with a central hair tuft. Dermatology 221: 107-109.
3. Aydingoz U, Cila A, Aktan G. 1997. Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 70: 764-766.
4. Bargman H. 1988. Congenital triangular alopecia. J Am Acad Dermatol 18: 390.
5. Barkovich AJ, Quint DJ. 1993. Middle interhemispheric fusion: An unusual variant of holoprosencephaly. Am J Neuroradiol 14: 431-440.
6. Beemer FA, Wanders RJ, Schutgens RB. 1990. VACTERL and hydrocephalus. Am J Med Genet 37: 425-426.
7. Briard ML, le Merrer M, Plauchu H, Dodinval P, Lambotte C, Moraine C, Serville F. 1984. Association of VACTERL and hydrocephalus: A new familial entity. Ann Genet 27: 220-223.
8. Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P. 2000. Gómez-López-Hernández syndrome: Expansion of the phenotype. Am J Med Genet 94: 405-408.
9. Chemli J, Abroug M, Tlili K, Harbi A. 2007. Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. Eur J Paediatr Neurol 11: 35-38.
10. Corsello G, Giuffre L. 1994. VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance. Am J Med Genet 49: 137-138.
11. de Jong G, Kirby PA. 2000. Defects of blastogenesis: Counseling dilemmas in two families. Am J Med Genet 91: 175-179.
12. di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, Rotmensch S. 2008. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. J Assist Reprod Genet 25: 577-580.
13. Elmer KB, George RM. 2002. Congenital triangular alopecia: A case report and review. Cutis 69: 255-256.
14. Evans JA, Chodirker BN. 1993. Absence of excess chromosome breakage in a patient with VACTERL-hydrocephalus. Am J Med Genet 47: 112-113.
15. Evans JA, Stranc LC, Kaplan P, Hunter AG. 1989. VACTERL with hydrocephalus: Further delineation of the syndrome(s). Am J Med Genet 34: 177-182.
16. Feuerman EJ. 1981. Congenital temporal triangular alopecia. Pediatr Dermatol 12: 301-303.
17. Garcia-Hernández MJ, Rodriguez-Pichardo A, Camacho F. 1995. Congenital triangular alopecia (Brauer nevus). Pediatric dermatology 12: 301-303.
18. Garfinkle WB. 1996. Aventriculy: A new entity? Am J Neuroradiol 17: 1649-1650.
19. Gómez MR. 1979. Cerebellotrigeminal and focal dermal dysplasia: A newly recognized neurocutaneous syndrome. Brain Dev 1: 253-256.
20. Gomy I, Heck B, Santos AC, Figueiredo MS, Martinelli CE Jr, Nogueira MP, Pina-Neto JM. 2008. Two new Brazilian patients with Gómez-López-Hernández syndrome: Reviewing the expanded phenotype with molecular insights. Am J Med Genet Part A 146A: 649-657.
21. Guleria S. 2011. ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis. Am J Med Genet Part A 155A: 2901.
22. Iafolla AK, McConkie-Rosell A, Chen YT. 1991. VATER and hydrocephalus: Distinct syndrome? Am J Med Genet 38: 46-4651.
23. Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. 2012. Rhombencephalosynapsis: A hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 35(Pt 5): 1370-1386.
24. Jan YN, Jan LY. 1993. Functional gene cassettes in development. Proc Natl Acad Sci USA 90: 8305-8307.
25. Kakita A, Hayashi S, Arakawa M, Takahashi H. 2001. Aprosencephaly: Histopathological features of the rudimentary forebrain and retina. Acta Neuropathol 102: 110-116.
26. Kubba R, Rook A. 1976. Congenital triangular alopecia. Br J Dermatol 95: 657-659.
27. Kumar S, Jaiswal AK, Rastogi M. 2006. Aventriculi associated with holoprosencephaly. J Clin Neurosci 13: 378-380.
28. Lespinasse J, Testard H, Nugues F, Till M, Cordier MP, Althuser M, Amblard F, Fert-Ferrer S, Durand C, Dalmon F, Pourcel C, Jouk PS. 2004. A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: Fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES). Ann Genet 47: 405-417.
29. Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, Hahn JS. 2002. Middle interhemispheric variant of holoprosencephaly: A distinct cliniconeuroradiologic subtype. Neurology 59: 1860-1865.
30. López-Hernández A. 1982. Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. Neuropediatrics 13: 99-102.
31. Martinez-Frias ML, Frias JL, Opitz JM. 1998. Errors of morphogenesis and developmental field theory. Am J Med Genet 76: 291-296.
32. McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST. 2011. X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations. Am J Med Genet Part A 155A: 2370-2380.
33. Munoz RM, Santos AC, Graziadio C, Pina-Neto JM. 1997. Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review. Am J Med Genet 72: 34-39.
34. Opitz JM, Zanni G, Reynolds JF Jr, Gilbert-Barness E. 2002. Defects of blastogenesis. Am J Med Genet 115: 269-286.
35. Orioli IM, Castilla EE. 2010. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet Part C 154C: 13-21.
36. Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, Laquerriere A. 2009. Rhombencephalosynapsis and related anomalies: A neuropathological study of 40 fetal cases. Acta Neuropathol 117: 185-200.
37. Purvis DJ, Ramirez A, Roberts N, Harper JI. 2007. Gómez-López-Hernández syndrome: Another consideration in focal congenital alopecia. Br J Dermatol 157: 196-198.
38. Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD. 2011. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet Part A 155A: 1574-1580.
39. Robin NH, Ko LM, Heeger S, Muise KL, Judge N, Bangert BA. 1996. Syntelencephaly in an infant of a diabetic mother. Am J Med Genet 66: 433-437.
40. Romanengo M, Tortori-Donati P, Di Rocco M. 1997. Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: A case report. Clin Genet 52: 184-186.
41. Ruggieri M, Rizzo R, Pavone P, Baieli S, Sorge G, Happle R. 2000. Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter. Arch Dermatol 136: 426-427.
42. Sandalcioglu IE, Gasser T, van de Nes JA, Menken U, Stolke D, Wiedemayer H. 2006. Fusion of the cerebellar hemispheres ventral to the brainstem: A rare hindbrain-related malformation. Childs Nerv Syst 22: 73-77.
43. Sarnat HB. 2000. Molecular genetic classification of central nervous system malformations. J Child Neurol 15: 675-687.
44. Sener RN. 1998. Aventriculi associated with holoprosencephaly. Comput Med Imaging Graph 22: 345-347.
45. Sergi C, Hentze S, Sohn C, Voigtlander T, Jung C, Schmitt HP. 1997. Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): An unusual aberrant syngenetic complex. Brain Dev 19: 426-432.
46. Siebert JR, Schoenecker KA, Resta RG, Kapur RP. 2005. Holoprosencephaly and limb reduction defects: A consideration of Steinfeld syndrome and related conditions. Am J Med Genet Part A 134A: 381-392.
47. Silva CY, Lenzy YM, Goldberg LJ. 2010. Temporal triangular alopecia with decreased follicular density. Journal Cutan Pathol 37: 597-599.
48. Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. 2010. Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria. Eur J Pediatr 169: 1523-1528.
49. Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, Kalmanchey R, Barsi P, Schneider JF, Capone Mori A, Boltshauser E. 2002. Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Neuropediatrics 33: 209-214.
50. Tosti A. 1987. Congenital triangular alopecia. Report of fourteen cases. J Am Acad Dermatol 16: 991-993.
51. Trakimas C, Sperling LC, Skelton HG III, Smith KJ, Buker JL. 1994. Clinical and histologic findings in temporal triangular alopecia. J Am Acad Dermatol 31: 205-209.
52. Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV. 1991. MR imaging of rhombencephalosynapsis: Report of three cases and review of the literature. Am J Neuroradiol 12: 957-965.
53. Yachnis AT. 2002. Rhombencephalosynapsis with massive hydrocephalus: Case report and pathogenic considerations. Acta Neuropathol 103: 301-304.
54. Yamazaki M, Irisawa R, Tsuboi R. 2010. Temporal triangular alopecia and a review of 52 past cases. J Dermatol 37: 360-362.