GAPO syndrome associated with craniofacial vascular malformation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 225-227

  Castrillon Oberndorfer, Gregor ^a   Seeberger, Robin ^a   Bacon, Claire ^a   Engel, Michael ^a   Ebinger, Friedrich ^a   Thiele, Oliver Christian ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALOPECIA; BLINDNESS; CASE REPORT; CHILD; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CONGENITAL BLOOD VESSEL MALFORMATION; CONSANGUINEOUS MARRIAGE; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; HYPODONTIA; HYPOPLASIA; IMAGE RECONSTRUCTION; JUGULAR VEIN; LETTER; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MASTOID; MENTAL DEFICIENCY; MOTOR RETARDATION; OPTIC NERVE ATROPHY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; SCHOOL CHILD; SIGMOID SINUS; SLEEP APNEA SYNDROME; SYNDROME GAPO; THREE DIMENSIONAL IMAGING; TOOTH DISEASE; VEIN DILATATION; COMPUTER ASSISTED TOMOGRAPHY; ETHNICITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PSEUDOANODONTIA;

ABNORMALITIES, MULTIPLE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; SYNDROME;

EID: 75149167026     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33192     Document Type: Letter

References (8)

1. Andersen TH, Pindborg JJ. 1947. Et tilfaelde of total pseudoanodontia forbindelsemedcraniedeformitet, dvaergvaekst og ektodermal dysplasia. Odont Tids 55:484-493.
2. Demirgünes EF, Ersoy-Evans S, Karaduman A. 2009.GAPOsyndrome with the novel features of hypertension, ankyloglossia, and prognathism. Am J Med Genet Part A 149A:802-805.
3. Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC. 2008. GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature. Am J Med Genet Part A 15A:1523-1529.
4. Goucha S, Mnif N, Bouhala T, Tenzakhti F, El Andaloussi H, Fazaa B, Hamza R, Kamoun MR. 2002. Apport de l'imagerie dans l'exploration du syndrome GAPO. J Radiol 83:153-156.
5. Kocabay G, Mert M. 2009. GAPO syndrome associated with dilated cardiomyopathy: An unreported association. Am J Med Genet Part A 149A:415-416.
6. Manouvrier-Hanu S, Largilliere C, Benalioua M, Farriaux JP, Fontaine G. 1987. The GAPO syndrome. Am J Med Genet Part A 26A:683-688.
7. Moriya N, Mitsui T, Shibata T, Yamaguchi K, Kanazawa C, Matsunaga A, Hayasaka K. 1995.GAPOsyndrome: Report on the first case in Japan.Am J Med Genet Part A 11A:257-261.
8. Tipton RE, Gorlin RJ. 1984. Growth retardation, alopecia, pseudoanodontia, and optic atrophy - The GAPO syndrome. Am J Med Genet Part A 19A:209-216.