GAPO syndrome: A report of two siblings and a review of literature

Pediatric Dermatology

Volumn 27, Issue 2, 2010, Pages 156-161

  Nanda, Arti ^a   Al Ateeqi, Wafa A ^b   Al Khawari, Mona A ^b   Alsaleh, Qasem A ^a   Anim, Jeoram T ^c  

^a As'Ad Al Hamad Dermatology Center   (United Arab Emirates)

^b Al Amiri Hospital   (United Arab Emirates)

^c KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; BRAIN ATROPHY; BRAIN VEIN; BRAIN VENTRICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL HIP DISLOCATION; CONSANGUINITY; DEMYELINATION; DENTITION; DERMIS; EPIDERMIS; EYE EXAMINATION; EYEBROW; EYELASH; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GRAY MATTER; GROWTH RETARDATION ALOPECIA PSEUDOANODONTIA OPTIC ATROPHY SYNDROME; HISTOPATHOLOGY; HUMAN; HYPERTELORISM; HYPOTRICHOSIS; LABORATORY TEST; LIP MALFORMATION; MALE; MICROGNATHIA; MOUTH EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC DISK; PALLOR; PANORAMIC RADIOGRAPHY; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCALP; SIBLING; SKIN BIOPSY; SWEATING; SYNDROME GAPO; TOOTH ERUPTION; VEIN DILATATION; WHITE MATTER; ALOPECIA; ECTODERMAL DYSPLASIA; FAILURE TO THRIVE; GENETICS; HYPODONTIA; OPTIC NERVE ATROPHY; PATHOLOGY; RADIOGRAPHY; RECESSIVE GENE; SYNDROME;

ALOPECIA; ANODONTIA; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; ECTODERMAL DYSPLASIA; FAILURE TO THRIVE; FEMALE; GENES, RECESSIVE; HUMANS; MALE; OPTIC ATROPHY; SIBLINGS; SYNDROME;

EID: 77951286094     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2010.01100.x     Document Type: Article

References (25)

1. Anderson TH, Pindborg JJ. Et tilfaelde at total " pseudoanodonti" I forbindelse med kranie deformitet, dvaergvaekst og ektodermal dysplasi. Odontol Tilster 1947 55 : 484 493.
2. Tipton RE, Gorlin RJ. Growth retardation, alopecia, pseudoanodontia, and optic atrophy-the GAPO syndrome. Am J Med Genet 1984 19 : 209 216.
3. Epps DR, Mendonça BB, Olazabal LC et al. Poiquilodermia congênita familiar (S. de Rothmund-Thompson). Cienc Cult 1977 29 (Suppl. 740.
4. Fuks A, Rosenmann A, Chosack A. Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: a new syndrome. J Dent Child 1978 52 : 155 157.
5. Da Silva EO. Dwarfism, alopecia, pseudoanodontia and other anomalies. Report of a case. Braz J Genet 1984 7 : 743 747.
6. Gagliardi ART, Gouzalez CH, Pratesi R. GAPO syndrome. Report of three affected brothers. Am J Med Genet 1984 19 : 217 223. (Pubitemid 15209868)
7. Manouvrier-Hanu S, Largilliere C, Benalioua M et al. Brief clinical report: the GAPO syndrome. Am J Med Genet 1987 26 : 683 688. (Pubitemid 17036550)
8. *23074) - a connective tissue disease: report of two affected sibs and on the pathologic findings in the older. Am J Med Genet 1990 37 : 213 223. (Pubitemid 20346217)
9. Dellac M, Manouvrier-Hanu S, Rouland JF. Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudoanodontia, optic atrophy). Aprpos of a case. J Fr Ophthalmol 1990 13 : 547 550.
10. Russell LJ, Hascall VC, Imai Y et al. The GAPO syndrome: a disorder of glycosaminoglycan metabolism. Am J Hum Genet 1992 51 : A107.
11. Sayli BS, Gül D. GAPO syndrome in three relatives in a Turkish kindred. Am J Med Genet 1993 65 : 342 345. (Pubitemid 23263633)
12. Phadke SR, Haldhar A, Sharma AK et al. GAPO syndrome in a child without dermal hyaline deposits. Am J Med Genet 1994 51 : 193 194. (Pubitemid 24184448)
13. Sandgren G. GAPO syndrome: a new case. Am J Med Genet 1995 58 : 87 90.
14. Moriya N, Mitsui T, Shibata T et al. GAPO syndrome: report on the first case in Japan. Am J Med Genet 1995 58 : 257 261.
15. şayli BS, Gül D. GAPO syndrome in Türkiye. Am J Med Genet 1996 65 : 252 253.
16. Meguid NA, Afifi HH, Ramzy MI et al. GAPO syndrome: first Egyptian case with ultrastructural changes in the gingival. Clin Genet 1997 52 : 110 115.
17. Mullaney PB, Jacquemin C, Al-Rashed W et al. Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. Arch Ophthalmol 1997 115 : 940 941.
18. Bacon W, Hall RK, Roset JP et al. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. J Craniofac Genet Dev Biol 1999 19 : 189 200. (Pubitemid 30095295)
19. Ilker SS, Östürk F, Kurt E et al. Ophthalmic findings in GAPO syndrome. Jpn J Ophthalmol 1999 43 : 48 52. (Pubitemid 29118402)
20. Goucha S, Fazaa B, Ezzine N et al. Le syndrome GAPO. Ann Dermatol Venereol 2000 127 : 501 504. (Pubitemid 30435633)
21. Orbak Z, Orbak R, Ozkan R et al. GAPO syndrome: first patient with partially empty sella. J Pediatr Endocrinol Metab 2002 15 : 865 868. (Pubitemid 34704840)
22. Touzri RA, Goucha S, Kriaa L et al. Ocular manifestations in GAPO syndrome. Report of the first Tunisian case. J Fr Ophthalmol 2003 26 : 1067 1070. (Pubitemid 38089669)
23. Rim PHH, Marques-de-Faria AP. Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genet 2005 26 : 143 147. (Pubitemid 43194123)
24. da Silveira HED, Quadros OF, Dalla-Bona RR et al. Dental findings in GAPO: case report. Braz Dent J 2006 17 : 259 262.
25. Goloni-Bertollo EM, Ruiz MT, Goloni CB et al. GAPO syndrome: three new Brazilian cases, additional manifestations, and review of the literature. Am J Med Genet A 2008 146 : 1523 1529.