SPONASTRIME Dysplasia: Report on a Female Patient with Severe Skeletal Changes

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 4, 1996, Pages 429-432

  Masuno, Mitsuo ^a   Nishimura, Gen ^b   Adachi, Masanori ^a   Hotsubo, Tomoyuki ^a   Tachibana, Katsuhiko ^a   Makita, Yoshio ^a   Imaizumi, Kiyoshi ^a   Kuroki, Yoshikazu ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Autosomal recessive inheritance; Genetic heterogeneity; Laryngotracheomalacia; SPONASTRIME dysplasia; Subglottic stenosis

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; FEMALE; HUMAN; MACROCEPHALY; METAPHYSIS; MIDFACE HYPOPLASIA; NOSE MALFORMATION; PRIORITY JOURNAL; SHORT LIMBED DWARFISM; VERTEBRA MALFORMATION;

BONE DISEASES, DEVELOPMENTAL; FEMALE; HUMANS; INFANT;

EID: 0030477036     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F     Document Type: Article

References (6)

1. Camera G, Camera A, Di Rocco M, Gatti R (1993): Sponastrime dysplasia: Report on two siblings with mental retardation. Pediatr Radiol 23:611-614.
2. Camera G, Camera A, Pozzolo S, Costa P (1994): Sponastrime dysplasia: Report on a male patient. Pediatr Radiol 24:322-324.
3. Fanconi S, Issler C, Giedion A, Prader A (1983): The SPONASTRIME dysplasia: Familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Helv Paediatr Acta 38:267-280.
4. Greulich WW, Pyle SI (1959): "Radiographic Atlas of Skeletal Development of the Hand and Wrist." Stanford, California: Stanford University Press.
5. Lachman RS, Stoss H, Spranger J (1989): Sponastrime dysplasia: A radiologie-pathologic correlation. Pediatr Radiol 19:417-424.
6. Verloes A, Misson J-P, Dubru J-M, Jamblin P, Le Merrer M (1995): Heterogeneity of SPONASTRIME dysplasia: Delineation of a variant form with severe mental retardation. Clin Dysmorphol 4: 208-215.