Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum

American Journal of Medical Genetics, Part A

Volumn 140, Issue 17, 2006, Pages 1854-1858

  English, Sharon J ^a   Gayatri, Neti ^a   Arthur, Rosemary ^a   Crow, Yanick J ^b  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Agenesis of the corpus callosum; Neuronal migration disorder; Pachygyria; Sedaghatian; Spondylometaphyseal dysplasia

Indexed keywords

ARTICLE; CASE REPORT; CAUCASIAN; CELL MIGRATION; CHILD DEATH; CORPUS CALLOSUM AGENESIS; CYANOSIS; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; FEMALE; HUMAN; INFANT; METAPHYSIS; MUSCLE HYPOTONIA; NERVE CELL; PACHYGYRIA; PRIORITY JOURNAL; SEDAGHATIAN SPONDYLOMETAPHYSEAL DYSPLASIA; SEIZURE; SPONDYLOEPIPHYSEAL DYSPLASIA;

BONE AND BONES; BRAIN; CORPUS CALLOSUM; FEMALE; HUMANS; INFANT, NEWBORN; OSTEOCHONDRODYSPLASIAS;

EID: 33748313101     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31376     Document Type: Article

References (12)

1. Campbell RSD, Ireland M, Bloxham CA, Chippindale AJ. 1992. Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. Pediatr Radiol 22:90-92.
2. Elcioglu N, Hall CM. 1998. Spondylometaphyseal dysplasia-Sedaghatian type. Am J Med Genet 76:410-414.
3. Foulds N, Fairhurst J, Temple IK, Cade S, Groves C, Lancaster T. 2003. A female case of Sedaghatian type spondylometaphyseal dysplasia. Am J Med Genet Part A 118A:377-381.
4. Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG. 2004. Wolcott-Rallison syndrome: A clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 93: 1195-1201.
5. Kerr B, Smith V, Patel R, Ladusans E, Sillence DO. 2000. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. Clin Dysm 9:167-172.
6. Klinge L, Schaper J, Wieczorek D, Voit T. 2002. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: A case report and review of the literature. Neuropediatrics 33:309-313.
7. Koutouby A, Habibullah J, Moinuddin FA. 2000. Spondylometaphyseal dysplasia: Sedaghatian type. Am J Med Genet 90:199-202.
8. 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.
9. Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M. 2005. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 27:237-240.
10. Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML. Gerard D, Gruber HE. 1992. Spondylometaphyseal dysplasia, Sedaghatian type. Am J Med Genet 44:651-656.
11. Sedaghatian MR. 1980. Congenital lethal metaphyseal chondrodysplasia: A newly recognised complex autosomal recessive disorder. Am J Med Genet 6:209-274.
12. Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. 2004. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet 74:731-737.