Thanatophoric dwarfism

Thanatophoric By William

Chief Clinical

Severe achondroplasia

Heredity:

Some cases autosomal heterogeneous

Manifestations:

important

Differential

H. McAlister

Synonyms:

Chief Roentgen Manifestations:

Other

Dwarfism*

Details:

Diagnosis:

Variants: References:

recessive, possibly

(I)

Marked short limbed dwarfism obvious at birth (2) Large head with frontal bossing and depressed nasal bridge (3) Narrow AI’ diameter of the chest with a relatively long trunk (1) Marked tubular bone shortening, rhizomelic in distribution with metaphyseal flaring (2) Pronounced vertebral body flattening with wide disk spaces (3) Small spinal canal with greater narrowing in the lumbar region (1) (2) (3) (4)

Small sacrosciatic notches Short ribs with flared anterior Increased subcutaneous fat Short skull base

ends

Achondroplasia, achondrogenesis, metatropit dwarfism, asphyxiating thoracic dystrophy, osteogenesis imperfecta, and diastrophic dwarfism None 1. Kaufman RL, Rimoin DL, McAlister WH, et al: Am J Dis Child 120:53, 1970

2. Langer LO Jr, Spranger JW, Greinacher I, et al: Radiology 92:285, 1969 3. Saldino RM: Am J Roentgen01 112:185, 1971 ‘Thanatophoric:

158

Producing

death

Seminars

in Roentgenology,

Vol. VIII, No. 2 (April),

1973

MAJOR

SYNDROMES

159

of entire body. The skull has been trephined; the chest and abdominal cavity are open; the left femur has been removed. The tubular bones are short and bowed and have metaphyseal flaring. The iliac bones are squared. Fig. B. Another infant. Note the classic pelvic changes. Fig. C. Lateral view. The vertebral bodies are markedly flattened with more constriction in the midportion of the bodies. The ribs are short. Fig. D. The base of the skull is short with a small foramen magnum and frontal bossing.