New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 429-434

  Duval, Alex ^a   Boute, Odile ^a   Devisme, Louise ^a   Valat, Anne S ^a   Manouvrier, Sylvie ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Brain hypoplasia; Intrauterine growth retardation; Microcephaly; Rib hypoplasia; Rib gap defects

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; FEMALE; FETUS; HUMAN; INTRAUTERINE GROWTH RETARDATION; MICROCEPHALY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKELETON MALFORMATION;

EID: 0031797240     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981204)80:4<429::AID-AJMG24>3.0.CO;2-2     Document Type: Article

References (15)

1. Bass HN, Smith LE, Spakes RS, Gyepes MT (1975): Case report 33. Syndr Ident J 3:12-14.
2. Brizard J, Mimouni M, Seneze J, Thoyer-Rozat J (1973): Sur un cas de nanisme extrême àdébut intra-utérin vraissemblablement du type Seckel. Ann Pédiatr 20:655-660.
3. Burton EM, Oestreich AE (1988): Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis. Pédiatr Radiol 18:365-367.
4. Clarke EA, Nguyen VD (1985): Cerebro-costo-mandibular syndrome with consanguinity. Pédiatr Radiol 15:264-266.
5. Haan EA, Fursness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R (1989): Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III. Am J Med Genet 33:224-227.
6. Hennekam RCM, Goldschmeding R (1998): Complete absence of rib ossification, micrognathia and ear anomalies: Extreme expression of cerebro-costo-mandibular syndrome? Eur J Hum Genet 6:71-74.
7. Kroon AA, Smit BJ, Barth PG, Hennekan RC (1996): Lissencephaly with extreme cerebral and cerebellar hypoplasia: A magnetic resonance imaging study. Neuropediatrics 27:273-276.
8. Majewski F, Goecke T (1982): Studies of microcephalic primordial dwarf-ism I: Approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7-21.
9. Majewski F, Stoeckenius M, Kemperdick H (1982a): Studies of microccphalic primordial dwarfism III: An intra-uterine dwarf with platyspondyly and anomalies of pelvis and clavicles: Osteodysplastic primordial dwarfism type III. Am J Med Genet 12:37-42.
10. Majewski F, Ranke M, Schinzel A (1982b): Studies on microcephalic primordial dwarfism II: The Osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23-25.
11. Maroteaux P, Springer J, Stanescu V, LeMarec B, Pfeiffer RA, Beighton P, Mattel JF (1982): Atelosteogenesis. Am J Med Genet 13:15-25.
12. Merlob P, Schonfeld A, Grunebaum A, Mor N, Reisner SM (1987): Autoso-mal dominant cerebro-costo-mandibular syndrome: Ultrasonographîc and clinical findings. Am J Med Genet 26:195-202.
13. Plotz FB, van Essen AJ, Bosschaart AN, Bos AP (1996): Cerebro-costomandibular syndrome. Am J Med Genet 62:286-292.
14. Sillence D, Lachman R, Jenkins T, Riccardi V, Rimmoin D (1982): Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13:7-14.
15. Van den Ende JJ, Schrander-Stumpel C, Rupprecht E, Meinecke P, Maroteaux P, de Die-Smulders C, Hamel BCJ (1998): The cerebrocostomandibular syndrome: Seven patients and review of the literature. Clin Dysmorphol 7:87-95.