Biomaterial Database

Thanatophoric dysplasia: an autosomal dominant condition? 1988

M L Martínez-Frías, and M A Ramos-Arroyo, and J Salvador

Estudio Colaborativo Español de Malformaciones Congénitas, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

We present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births. The incidence (live and stillbirth) was 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was significantly higher as compared with control parents. These findings suggest the occurrence of autosomal dominant mutation, with an overall mutation rate of 1.34 X 10(-5) in our population, which is close to that observed in achondroplasia.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008423	Maternal Age	The age of the mother in PREGNANCY.	Age, Maternal,Ages, Maternal,Maternal Ages
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010009	Osteochondrodysplasias	Abnormal development of cartilage and bone.	Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
D010331	Paternal Age	Age of the biological father.	Age, Paternal,Ages, Paternal,Paternal Ages
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012306	Risk	The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.	Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative