Spondylometaphyseal dysplasia: Sedaghatian type

American Journal of Medical Genetics

Volumn 90, Issue 3, 2000, Pages 199-202

  Koutouby, Ayman ^a   Habibullah, Javed ^b   Moinuddin, Faquih Arif ^b  

^a Al Wasl Hospital   (United Arab Emirates)

^b NONE

Author keywords

Autosomal recessive inheritance; Congenital lethal metaphyseal chondrodysplasia (Sedaghatian type); Epimetaphyseal chondrodysplasia; Platyspondylic lethal osteochondrodysplasia (Shiraz type); Spondylometaphyseal dysplasia

Indexed keywords

ARTICLE; BONE MINERAL; CASE REPORT; CHONDRODYSPLASIA; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; HUMAN; INFANT; KIDNEY FUNCTION TEST; LIVER FUNCTION TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; YEMEN;

CLINICAL CHEMISTRY TESTS; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT, NEWBORN; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0034736985     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000131)90:3<199::AID-AJMG4>3.0.CO;2-I     Document Type: Article

References (6)

1. Campbell RSD, Ireland M, Bloxham CA, Chippindale AJ. 1992. Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiologicalpathological correlation. Pediatr Radiol 22:90-92.
2. Elcioglu N, Hall CM. 1998. Spondylometaphyseal dysplasia: Sedaghatian type. Am J Med Genet 76:410-414.
3. Opitz JM, Spranger JW, Stöss HR, Pesch HJ, Azadeh B. 1987. Sedaghatian congenital lethal metaphyseal chondrodysplasia: observation in a second Iranian family and histopathological studies. Am J Med Genet 26:583-590.
4. Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. 1992. Spondylomethaphyseal dysplasia, Sedaghatian type. Am J Med Genet 44:651-656.
5. Sedaghatian MR. 1980. Congenital lethal metaphyseal chondroplasia: a newly recognized complex autosomal recessive disorder. Am J Med Genet 6:269-274.
6. Spranger J, Maroteaux P. 1990. The lethal osteochondrodysplasia. Adv Hum Genet 19:1-103.