Table 3.

Thanatophoric Dysplasia: Clinical Features of Long-Term Survivors

Long-Term Survivor: Sex, Age at Report
Male, age 4.75 yrs 1Female, age 28 yrs 2Male, age 9 yrs 3Female, age 23 yrs 4Male, age 8 yrs 5
Method of diagnosis Clinical / radiographicMolecular (p.Arg248Cys)Molecular (p.Arg248Cys)Molecular (p.Arg248Cys)Molecular (p.Gly370Cys)
Ventilated from age Neonate2 mos9 yrsND2 days
Estimated developmental age 2 mos8-18 mos as a teenager 618 mosND10-12 mos
Neurologic
  • Hydrocephalus requiring shunt
  • Suboccipital decompression
  • Seizures
  • Hydrocephalus requiring shunt
  • Suboccipital decompression
  • Seizures
  • Mild ventriculomegaly
  • Marked stenosis of skull base & upper cervical spine
  • Clinically suspected high cervical myelopathy but no surgery
  • Seizures
NDND
Skin NDAcanthosis nigricans & seborrheic keratosesAcanthosis nigricansAcanthosis nigricans & seborrheic keratosesAcanthosis nigricans
Hearing Hearing impairment
  • Significant hearing impairment
  • Cholesteatoma
  • Mixed hearing impairment
  • Bilateral hearing aids
NDND
Growth parameters at birth ND
  • Weight: 2.1 kg
  • Length: 37 cm
  • OFC: 35 cm
  • Weight: 3.26 kg
  • Length: 41 cm
  • OFC: 39.5 cm
ND
  • Weight: 2.6 kg
  • Length: 37 cm
  • OFC: 37 cm
Growth parameters at specified age At age 4.75 yrs:
  • Weight: 8.82 kg
  • Length: 65 cm
  • OFC: 47.5 cm
At age 3.75 yrs: 7
  • Weight: 6.5 kg
  • Length: 55 cm
  • OFC: 49 cm
See footnote 8.NDAt age 9 yrs:
  • Weight: 4.7 kg
  • Length: 49 cm
  • OFC: 46.1 cm
Other Intermittent exotropia
  • Craniosynostosis
  • Renal calculi
  • Generalized joint hypermobility
  • Hip & knee flexion contractures
Renal calculi

ND = not documented; OFC = occipitofrontal head circumference

1.
2.
3.

Unpublished data are referenced describing a boy age 9 years with TD [Baker et al 1997]. No information regarding diagnostic features is reported, but the individual is reported to have been ventilated from birth, with severe developmental delay, hydrocephalus, hearing impairment, and acanthosis nigricans.

4.
5.
6.

Further deterioration by third decade of life and no longer able to use limbs or lift head

7.

Growth parameter estimates based on growth charts

8.

Slow linear growth, -6 to -6.5 SD below the mean on the achondroplasia growth charts; OFC at +1 SD in infancy and at -1.7 SD at age 8.7 years

From: Thanatophoric Dysplasia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.