Thanatophoric Dwarfism 1
General: Etiology unknown, but autosomal recessive inheritance is suspected; seen most frequently in males; onset in fetal life; death usually within first 3 days of life; possible association with drug administration has been reported.
Ocular: Exophthalmos.
Clinical: Head enlarged; small face; enlarged fontanelles; high forehead; frontal bossing; saddle nose; abdomen protuberant; thorax narrow; short rib; hypotonia; respiratory distress; cardiac failure; marked shortening of the extremities; macrocephaly.
Kassanos D, et al. Prenatal sonographic diagnosis of thanatophoric dwarfism. Int J Gynaecol Obstet 1991; 34: 373-376.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981. Maroteaux, P., et al. Lenanisme Thanatophore. Presse Med 1967; 775:2519-2522.
Rafla NM, Meehan FP. Thanatophoric dwarfism; drugs and antenatal; a case report. Eur J Obstet Gynecol Biol 1991; 38:161-l65.
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