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Literature DB >> 2596513

Growth and development in thanatophoric dysplasia.

I M MacDonald¹, A G Hunter, P M MacLeod, S B MacMurray.

Abstract

Two cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profound developmental delay and dramatic growth failure.

Entities: Disease Species

Mesh：

Year: 1989 PMID： 2596513 DOI： 10.1002/ajmg.1320330420

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

12 in total

1. 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

2. 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

3. Thanatophoric dysplasia: a case report.

Authors: Olusoji Edward Jagun; Mojisola Adejoke Olusola-Bello; Abiodun Folashade Adekanmbi; Omodele Oluyemisi Jagun; Tolani Oduwole
Journal: Pan Afr Med J Date: 2020-11-05

4. Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.

Authors: M K Webster; P Y D'Avis; S C Robertson; D J Donoghue
Journal: Mol Cell Biol Date: 1996-08 Impact factor: 4.272

Growth and development in thanatophoric dysplasia.

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

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

3. Thanatophoric dysplasia: a case report.

4. Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.

5. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

6. Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.

7. A case of thanatophoric dysplasia type 2: a novel mutation.

8. Growth and development in thanatophoric dysplasia - an update 25 years later.

9. Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor.

Review 10. Ethical language and decision-making for prenatally diagnosed lethal malformations.