Review
doi: 10.1002/ajmg.1320280521.
Thanatophoric dysplasia and cloverleaf skull
Affiliations
- PMID: 3130852
- DOI: 10.1002/ajmg.1320280521
Item in Clipboard
Review
Thanatophoric dysplasia and cloverleaf skull
Am J Med Genet Suppl.
1987.
Abstract
Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty-two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. It is concluded that there are two types of TD: type 1, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteristics differentiate the two types. Only a very few type 1 cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.
Similar articles
-
Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases.Clin Dysmorphol. 1993 Jan;2(1):1-19. Clin Dysmorphol. 1993. PMID: 8298733
-
[Description of a case of thanatophoric dysplasia with cloverleaf skull].Pediatr Med Chir. 1986 May-Jun;8(3):423-5. Pediatr Med Chir. 1986. PMID: 3786207 Italian.
-
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.Am J Med Genet. 1998 Jul 7;78(3):274-81. doi: 10.1002/(sici)1096-8628(19980707)78:3<274::aid-ajmg14>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9677066
-
[Fatal nanism: 3 different entities].An Esp Pediatr. 1991 Apr;34(4):305-9. An Esp Pediatr. 1991. PMID: 2069281 Review. Spanish.
-
Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.Taiwan J Obstet Gynecol. 2018 Feb;57(1):119-122. doi: 10.1016/j.tjog.2017.12.020. Taiwan J Obstet Gynecol. 2018. PMID: 29458880 Review.
Cited by
-
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.Korean J Pediatr. 2010 Dec;53(12):1022-5. doi: 10.3345/kjp.2010.53.12.1022. Epub 2010 Dec 31. Korean J Pediatr. 2010. PMID: 21253318 Free PMC article.
-
Achondroplasia: a comprehensive clinical review.Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. Orphanet J Rare Dis. 2019. PMID: 30606190 Free PMC article. Review.
-
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275. Am J Hum Genet. 1999. PMID: 10053006 Free PMC article.
-
International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352. Eur J Pediatr. 1992. PMID: 1628667 Review. No abstract available.
-
Evaluation of newborns with skeletal dysplasias.Indian J Pediatr. 2000 Dec;67(12):907-13. doi: 10.1007/BF02723957. Indian J Pediatr. 2000. PMID: 11262990