Cerebro-oculo-facio-skeletal syndrome complicated by congenital ichthyosis

Clinical Dysmorphology

Volumn 15, Issue 1, 2006, Pages 39-40

  Suzumura, Hiroshi ^a   Nitta, Akihisa ^a   Arisaka, Osamu ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Blepharophimosis; Cataracts; Cerebro oculo facio skeletal syndrome; COFS; Developmental delay; Ichthyosis; Joint contractures; Microcephaly; Micrognathia

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CATARACT; CLINICAL FEATURE; COFS SYNDROME; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EPICANTHUS; FACIES; GROWTH RETARDATION; HUMAN; HYPERTELORISM; JOINT CONTRACTURE; MALE; MICROCEPHALY; MICROGNATHIA; NEWBORN; NEWBORN DEATH; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEPTIC SHOCK; GENETICS; MUSCULOSKELETAL SYSTEM MALFORMATION; PATHOLOGY; SYNDROME; X CHROMOSOME; Y CHROMOSOME;

CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INFANT, NEWBORN; MALE; MUSCULOSKELETAL ABNORMALITIES; SYNDROME;

EID: 33646382861     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000181603.78252.e7     Document Type: Article

References (5)

1. Horn D, Muller D, Thiele H, Kunze J (1997). Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome? Clin Dysmorphol 6:323-328.
2. Pena SDJ, Shokeir MHK (1974). Autosomal recessive cerebro-oculo-facio- skeletal (COFS) syndrome. Clin Genet 5:285-293.
3. Silengo MC, Davi G, Bianco R, Biagioli M, Franceschini P, Cavallo M, et al. (1984). The NEU-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. Clin Genet 25:201-204.
4. Thakur S, Pal L, Phadke SR (2004). Lethal arthrogryposis with ichthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus. Clin Dysmorphol 13:117-119.
5. Winter RM, Donnai D, Crawfurd Md'A (1981). Syndrome of microcephaly, microphthalmia, cataracts, and joint contractures. J Med Genet 18:129-133.