메뉴 건너뛰기




Volumn 152 A, Issue 10, 2010, Pages 2563-2568

Barber-Say syndrome in a father and daughter

Author keywords

Autosomal dominant inheritance; Barber Say syndrome; Phenotypic expression; Surgical treatment

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BARBER SAY SYNDROME; CASE REPORT; CHILD; DRY SKIN; EYE MALFORMATION; EYELID DISEASE; FACE MALFORMATION; FACE SURGERY; FEMALE; HUMAN; HYPERTRICHOSIS; LOW LEVEL LASER THERAPY; MACROSTOMIA; NOSE MALFORMATION; NOSE RECONSTRUCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN ATROPHY; SKIN GRAFT; WRINKLE; ADULT; ATROPHY; CONGENITAL MALFORMATION; EYE DISEASE; EYELID; GENETICS; KARYOTYPING; MALE; MULTIPLE MALFORMATION SYNDROME; NOSE; PATHOLOGY; SKIN; SYNDROME;

EID: 78349234259     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33622     Document Type: Article
Times cited : (18)

References (11)
  • 1
    • 0020441459 scopus 로고
    • Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation
    • Barber N, Say B, Bell RF, Mervielle OC. 1982. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation. Syndr Ident 8: 6-9.
    • (1982) Syndr Ident , vol.8 , pp. 6-9
    • Barber, N.1    Say, B.2    Bell, R.F.3    Mervielle, O.C.4
  • 3
    • 0025828810 scopus 로고
    • Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation
    • David A, Gordeeff A, Badoual J, Delaire J. 1991. Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation. Am J Med Genet 39: 112-115.
    • (1991) Am J Med Genet , vol.39 , pp. 112-115
    • David, A.1    Gordeeff, A.2    Badoual, J.3    Delaire, J.4
  • 4
    • 0032769650 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of Barber-Say syndrome
    • Dinulos MB, Pagon RA. 1999. Autosomal dominant inheritance of Barber-Say syndrome. Am J Med Genet 86: 54-56.
    • (1999) Am J Med Genet , vol.86 , pp. 54-56
    • Dinulos, M.B.1    Pagon, R.A.2
  • 6
    • 0027220991 scopus 로고
    • Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): Report of a new case
    • Martinez Santana S, Pérez Alvarez F, Frias JL, Martinez-Frias ML. 1993. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): Report of a new case. Am J Med Genet 47: 20-23.
    • (1993) Am J Med Genet , vol.47 , pp. 20-23
    • Martinez Santana, S.1    Pérez Alvarez, F.2    Frias, J.L.3    Martinez-Frias, M.L.4
  • 8
    • 33745295734 scopus 로고    scopus 로고
    • Oculoplastic approach to treating Barber-Say syndrome
    • Ng JD, Rajguru DS. 2006. Oculoplastic approach to treating Barber-Say syndrome. Ophtal Plast Reconstr Surg 22: 232-234.
    • (2006) Ophtal Plast Reconstr Surg , vol.22 , pp. 232-234
    • Ng, J.D.1    Rajguru, D.S.2
  • 10
    • 0031578615 scopus 로고    scopus 로고
    • Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome
    • Sod R, Izbizky G, Cohen-Salama M. 1997. Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome. Am J Med Genet 73: 366-367.
    • (1997) Am J Med Genet , vol.73 , pp. 366-367
    • Sod, R.1    Izbizky, G.2    Cohen-Salama, M.3
  • 11
    • 33645528002 scopus 로고    scopus 로고
    • What syndrome is this? Barber-Say syndrome
    • Tenea D, Jacyk WK. 2006. What syndrome is this? Barber-Say syndrome. Pediatr Dermatol 23: 183-184.
    • (2006) Pediatr Dermatol , vol.23 , pp. 183-184
    • Tenea, D.1    Jacyk, W.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.