Thanatophoric Dwarfism

Homozygous achondroplasia with survival beyond infancy

“…The radiographic changes were also the same as in our cases 1 and 3; no radiographs were obtained neonatally in our case 2. Their first case [Hall et al, 1969;Langer et al, 1969;Rimoin et al, 19731 was a male with recurrent periodic apnea of undetermined cause, without evidence for hydrocephalus. He died at 11 weeks, apparently from viral pneumonia.…”

Growth and development in thanatophoric dysplasia

“…Recently Tonoki [1987] and Stensvold et al [1986], cited patients who lived 212 and 169 days, respectively, with death occurring because of respiratory failure. Hydrocephalus may develop beyond the neonatal period [Stensvold et al, 19861, and apneic spells may be an early manifestation of cord compression in the small foramen magnum [Langer et al, 1969;Shah et al, 19731. Management of these complications may not prevent neurological problems that affect development [Tonoki, 19871. Cortical malformations [Tonoki, 19871, polymicrogyria [Shah et al, 19731, neuronal heterotopia, and cerebellar hypoplasia in a small posterior fossa [Shigematsu et al, 19851 have been noted.…”

A new type of achondrogenesis

“…Up to 1973 all types of achondrogenesis were reported under the same name. That year we pointed out [2] that patients as reported by Parenti and Fraccaro [1,5] are different from those of Langer and Saldino [4,6]. We named the Langer and Saldino from thanatophoric dwarfism H [2].…”