Perinatally lethal, short-limbed dwarfism with distinct features - Schneckenbecken dysplasia

Ultrasound in Obstetrics and Gynecology

Volumn 24, Issue 5, 2004, Pages 575-577

  Varkey, J J ^a   Jones, R A K ^a  

^a WEXHAM PARK HOSPITAL   (United Kingdom)

Author keywords

Hydrops; Perinatal; Schneckenbecken; Skeletal dysplasia

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BIRTH WEIGHT; BONE DYSPLASIA; BONE MINERALIZATION; CASE REPORT; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; DWARFISM; FEMALE; FETUS DEATH; FETUS ECHOGRAPHY; HISTOPATHOLOGY; HUMAN; HYDRAMNIOS; LABOR INDUCTION; LUNG HYPOPLASIA; NEWBORN; PARENT COUNSELING; PERINATAL DEATH; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SNAILLIKE PELVIS; STILLBIRTH; THIRD TRIMESTER PREGNANCY;

ADULT; FEMALE; FETAL DEATH; HUMANS; PREGNANCY; THANATOPHORIC DYSPLASIA; ULTRASONOGRAPHY, PRENATAL;

EID: 7044234617     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1002/uog.1115     Document Type: Article

References (11)

1. Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL. A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. Am J Med Genet 1986; 25: 47-59.
2. Graff G, Chemke J, Lancet M. Familial recurring thanatophoric dwarfism. Obstet Gynecol 1972; 39: 515.
3. Laxova R, Ohara PT, Ridler MAC, Timothy JAD. Family with probable achondrogenesis and lipid inclusion in fibroblasts. Arch Dis Child 1973; 48: 212.
4. Knowles S, Winter R, Rimion D. A new category of lethal short-limbed dwarfism. Am J Med Genet 1986; 25: 41.
5. Kozlowski K, John E, Masel J, Muralinath S, Vijayalakshmi G. Case report: neonatal platyspondylic dwarfism - a new form. Br J Radiol 1995; 68: 1254-1256.
6. Sillence D, Delprado W, Edwards M, Kozlowski K. Case report 870, Schneckenbecken dysplasia possibly a new variant. Skeletal Radiol 1994; 23: 586-588.
7. Giedion A, Biedermann K, Briner J, Soler R, Spycher M. Case report 693: Schneckenbecken dysplasia. Skeletal Radiol 1991; 20: 534-538.
8. Nikkels PG, Stigter RH, Knol IE, van der Harten HJ. Schneckenbecken dysplasia, radiology, and histology. Pediatr Radiol 2001; 31: 27-30.
9. Okamoto N. Skeletal dysplasia, Schneckenbecken type. Ryoikibetsu Shokogun Shirizu 2001; 34: 657-658.
10. Camera G, Scarano G, Tronci A, La Cava G, Mastroiacova P. 'Snail-like pelvis' chondroplasia: a further case report. Am J Med Genet 1991; 40: 513-514.
11. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.