Thanatophoric dysplasia- type 1
Overview
Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
Symptoms
Severe central nervous system abnormalities Temporal lobe dysplasia Megalencephaly Hydrocephalus Brain stem hypoplasia
Diagnosis
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
Prognosis
By definition, this malformation is uniformly lethal before or shortly after birth. The main cause for this is lung hypoplasia (due to the small thorax) which lead to immediate postnatal asphyxia