Spondylometaphyseal dysplasia-Sedaghatian type

American Journal of Medical Genetics

Volumn 76, Issue 5, 1998, Pages 410-414

  Elçioglu, Nursel ^b   Hall, Christine M ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

AR inheritance; Lethal chondrodysplasia; Metaphyseal dysplasia; Platyspondyly; Sedaghatian dysplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; BONE MATURATION; BONE RADIOGRAPHY; CASE REPORT; FIBULA; HUMAN; INFANT; MALE; MEDICAL LITERATURE; PRIORITY JOURNAL;

EID: 0032513571     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980413)76:5<410::AID-AJMG8>3.3.CO;2-R     Document Type: Article

References (5)

1. Campbell RSD, Ireland M, Bloxham CA, Chippindale (1992): Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological pathological correlation. Pediatr Radiol 22:90-92.
2. Opitz JM, Spranger JW, Stöss HR, Pesch H-J, Azadeh B (1987): Sedaghatian congenital lethal metaphyseal chondrodysplasia: Observations in a second Iranian family and histopathological studies. Am J Med Genet 26:583-590.
3. Peeden Jr JN, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE (1992): Spondylometaphyseal dysplasia, Sedaghatian type. Am J Med Genet 44:651-656.
4. Sedaghatian MR (1980): Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder. Am J Med Genet 6:269-274.
5. Spranger J, Maroteaux P (1990): The lethal osteochondrodysplasias. Adv Hum Genet 19:1-103.