Thanatophoric Dysplasia

What is Thanatophoric dysplasia?

The term thanatophoric is Greek for "death bearing" and dysplasia is Greek for "malformation" and is used in pathology terminology to refer to an abnormality of development. Thanatophoric dysplasia literally means "death bearing malformation." It is a skeletal disorder in which infants born with this condition are usually stillborn or die shortly after birth from respiratory failure.

There are two types of Thanatophoric dysplasia. It is a short-limb dwarfism syndrome, in which type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (kleeblattschaedel) of varying severity; and type II, is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity.

Features of thanatophoric dysplasia include macrocephaly, narrow bell-shaped thorax, normal trunk length, and severe shortening of the limbs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most affected infants die of respiratory failure shortly after birth.

For more information on Thanatophoric dysplasia please visit these sites:

NCBI National Center for Biotechnology Information

Genetics Home Referenc U.S. National Library of Medicine

eMedicine WebMD


Loading

Books on Loss and Grief

Our Heartbreaking Choices: Forty-Six Women Share Their Stories of Interrupting a Much-Wanted Pregnancy

The Dive :: A Memoir

A Time to Decide a Time to Heal: For Parents Making Difficult Decisions About Babies They Love

Precious Lives Painful Choices: A Prenatal Decision-Making Guide

Sunshine After the Storm: A Survival Guide for the Grieving Mother

Empty Cradle, Broken Heart, Revised Edition: Surviving the Death of Your Baby

Empty Arms: Coping With Miscarriage, Stillbirth and Infant Death

A Silent Sorrow: Pregnancy Loss

Unspeakable Losses: Healing From Miscarriage, Abortion, And Other Pregnancy Loss

Surviving Pregnancy Loss: A Complete Sourcebook for Women and Their Families

Difficult Decisions: For Families Whose Unborn Baby Has a Serious Problem

Books for Fathers, Family, Children and Friends

Couple Communication After a Baby Dies: Differing Perspectives

For Better or Worse: For Couples Whose Child Has Died

How to Say it When You Don't Know What to Say: The Right Words For Difficult Times

A Guide For Fathers: When A Baby Dies

When Your Friend's Child Dies: A Guide to Being a Thoughtful and Caring Friend

When Pregnancy Fails: Families Coping with Miscarriage, Stillbirth, and Infant Death

What You Can Say When You Don't Know What to Say: Reaching Out to Those Who Hurt

Books about Trying Again and Pregnancy after Loss

Journeys: Stories of Pregnancy After Loss

Trying Again: A Guide to Pregnancy After Miscarriage, Stillbirth, and Infant Loss

Pregnancy After a Loss: A Guide to Pregnancy After a Miscarriage, Stillbirth, or Infant Death