Literature DB >> 3130852

Thanatophoric dysplasia and cloverleaf skull.

L O Langer1, S S Yang, J G Hall, A Sommer, S R Kottamasu, M Golabi, N Krassikoff.   

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.

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Year:  1987        PMID: 3130852     DOI: 10.1002/ajmg.1320280521

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  13 in total

1.  Thanatophoric dysplasia: a rare entity.

Authors:  N S Naveen; B V Murlimanju; Vishal Kumar; Thejodhar Pulakunta
Journal:  Oman Med J       Date:  2011-05

2.  A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.

Authors:  Ibuki Kimura; Ryota Araki; Toshiyuki Yoshizato; Shingo Miyamoto
Journal:  J Med Ultrason (2001)       Date:  2015-06-24       Impact factor: 1.314

Review 3.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

Review 4.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

5.  Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Authors:  Ugo E Pazzaglia; Carla M Donzelli; Claudia Izzi; Maurizia Baldi; Giuseppe Di Gaetano; MariaPia Bondioni
Journal:  Skeletal Radiol       Date:  2014-05-25       Impact factor: 2.199

6.  De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

Authors:  J H Hersh; F F Yen; S C Peiper; M J Barch; O A Yacoub; D H Voss; J L Roberts
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

7.  A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Authors:  P L Tavormina; G A Bellus; M K Webster; M J Bamshad; A E Fraley; I McIntosh; J Szabo; W Jiang; E W Jabs; W R Wilcox; J J Wasmuth; D J Donoghue; L M Thompson; C A Francomano
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

8.  Evaluation of newborns with skeletal dysplasias.

Authors:  R I Macpherson; G S Pai
Journal:  Indian J Pediatr       Date:  2000-12       Impact factor: 1.967

Review 9.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

10.  Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings.

Authors:  Soo Hyun Lee; Jeong Yeon Cho; Mi Jin Song; Jee Yeon Min; Byoung Hee Han; Young Ho Lee; Byung Jae Cho; Seung Hyup Kim
Journal:  Korean J Radiol       Date:  2002 Apr-Jun       Impact factor: 3.500

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