Evolution of a patient with Bohring-Opitz syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1754-1757

  Pierron, Sophie ^a   Richelme, Christian ^a   Triolo, Valérie ^a   Mas, Jean Christophe ^a   Griffet, Jacques ^a   Karmous Benailly, Houda ^a   Quere, M ^a   Kaname, Tadashi ^b   Lambert, Jean Claude ^a   Giuliano, Fabienne ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

Author keywords

Bohring Optiz syndrome; C like syndrome; Epilepsy; Hirsutism; Psychomotor retardation; Trigonocephaly

Indexed keywords

ANTACID AGENT; ANTICONVULSIVE AGENT;

ARM MALFORMATION; ARTICLE; BACTERIAL PERITONITIS; BODY WEIGHT; BOHRING OPITZ SYNDROME; BRADYCARDIA; BRAIN DISEASE; BRAIN MALFORMATION; CAMPTODACTYLY; CAPILLARY HEMANGIOMA; CASE REPORT; CERVICAL SPINAL CORD; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; DIAGNOSTIC TEST; DIET SUPPLEMENTATION; DIET THERAPY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; ECHOGRAPHY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; EXOPHTHALMOS; EYE EXAMINATION; FACE MALFORMATION; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GROWTH RETARDATION; HEREDITARY SPHEROCYTOSIS; HIGH ARCHED PALATE; HIRSUTISM; HUMAN; HYPERTELORISM; HYPOPLASIA; INTESTINE OBSTRUCTION; INTESTINE SURGERY; MICROARRAY ANALYSIS; MICROCEPHALY; MOUTH MALFORMATION; NEUROLOGIC EXAMINATION; NEVUS FLAMMEUS; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL ASSESSMENT; OPITZ SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETROGNATHIA; SLEEP APNEA SYNDROME; SMALL INTESTINE PERFORATION; SPINAL CORD MALFORMATION; STOMACH FUNDOPLICATION; STRABISMUS; VOMITING;

ABNORMALITIES, MULTIPLE; CERVICAL VERTEBRAE; CHILD; CHILD, PRESCHOOL; FEMALE; GROWTH AND DEVELOPMENT; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; SYNDROME;

EID: 68049108319     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32910     Document Type: Article

References (10)

1. Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G, Schorderet DF. 1995. C trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel 6:113-120.
2. Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. 1999. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 85:438-446.
3. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. 2006. New cases of Bohring-Opitz syndrome, update and critical review of the literature. Am J Med Genet Part A 140A:1257-1263. (Pubitemid 43835410)
4. Brunner HG, van Tintelen JP, de Boer RJ. 2000. Bohring syndrome. Am J Med Genet 92:366-368.
5. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. 2007. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 81:835-841. (Pubitemid 47596551)
6. Lindor NM, Ramin KD, Kleinberg F, Bite U. 2000. Severe end of Opitz trigonocephaly C syndrome. Am J Med Genet 92:363-365. (Pubitemid 30341482)
7. Nakane T, Kubota T, Fukushima Y, Hata Y, Ishii J, Komiayama A. 2000. Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: Another example. Am J Med Genet 92:361-362. (Pubitemid 30341481)
8. Oberklaid F, Danks DM. 1975. The Opitz trigonocephaly syndrome. A case report. Am J Dis Child 129:1348-1349.
9. Opitz JM, Johnson RC, McCreadie SR, Smith DW. 1969. The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Ser 2:161-166.
10. Opitz JM, Putnam AR, Comstock JM, Chin S, Byrne JL, Kennedy A, Frikke MJ, Bernard C, Albrecht S, Der Kaloustian V, Szakacs JG. 2006. Mortality and pathological findings in C (Opitz Trigonocephaly) syndrome. Fetal Pediatr Pathol 25:211-231. (Pubitemid 44949938)