Cerebro-reno-digital (Meckel-like) syndrome with limb malformations and acetabular spurs in two sibs: A new MCA syndrome? [4]

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 213-215

  Franceschini, Piergiorgio ^a,b   Licata, Domenico ^b   Guala, Andrea ^c   Gaglioti, Pietro ^d   Botta, Gianni ^e   Gianotti, Gianna ^f   Franceschini, Daniele ^g  

^a Servizio di Genetica Clinica   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c Ospedale SS Pietro e Paolo   (Italy)

^d Clin Univ Ostetrico Ginecol S A   (Italy)

^e ASO OIRM Sant'Anna   (Italy)

^f Ospedale Civile   (Italy)

^g Università degli Studi   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETABULUM; ADULT; BONE BOWING; CASE REPORT; FEMALE; FETUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; LIMB MALFORMATION; MALE; MECKEL SYNDROME; OSTEOPHYTE; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIOGRAPHY; SIBLING; ULTRASOUND;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM; FEMALE; FETUS; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; PELVIC BONES; POLYCYSTIC KIDNEY DISEASES; SYNDROME;

EID: 9644265527     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30313     Document Type: Letter

References (3)

1. Majewski F, Stöß H, Goecke T, Kemperdick H. 1983. Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? Hum Genet 65:125-133.
2. Malguria N, Merchant SA, Kiran KV, Vergese SL. 1996. Meckel-Gruber syndrome associated with short limbed dwarfism. J Postgrad Med 42:55-56.
3. Saalonen R, Paavola P. 1998. Meckel syndrome. J Med Genet 35:497-501.