Lethal Skeletal Dysplasias

Description: Skeletal Dysplasia conditions that most often are not compatible with life past the newborn period. These references also exist under their specific diagnosis headings.

Achondrogenesis Type 1B
Source/Author: Luisa Bonafe, MD, PhD, Diana Ballhausen, MD, Andrea Superti-Furga, MD - GeneReviews 
Medical review
Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

Atelosteogenesis Type 2
Source/Author: Luisa Bonafe, MD, PhD, Diana Ballhausen, MD, Andrea Superti-Furga, MD - GeneReviews 
Medical review
Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

Kolby's story: Thanatophoric Dysplasia Personified
Source/Author: Parents of child with thanatophoric dysplasia 
A family's personal web site describing their experience with having a baby with thanatophoric dysplasia.

Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report.
Source/Author: Suzumura H, Kohno T, Nishimura G, Watanabe H, Arisaka O.; Pediatr Radiol. 2002 May;32(5):373-5. Epub 2002 Mar 9. 
Abstract

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
Source/Author: Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A.; Clin Genet. 1990 Aug;38(2):84-93. 
Abstract

Thanatophoric Dysplasia
Source/Author: Barbara Karczeski, MS; Garry R Cutting, MD - GeneReviews
Medical Review 
In medical terms. Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.