Robinow-Silverman-Smith Syndrome (Achondroplastic Dwarfism;
Mesomelic Dwarfism;
Robinow Dwarfism) 1
General: Autosomal dominant; both sexes affected; present from birth.
Ocular: Hypertelorism; epicanthal folds.
Clinical: Dwarfism; shortened forearms; bulging forehead; depressed nasal bridge; hypoplastic mandible; small, upturned nose; micrognathia; crowded teeth; penile hypoplasia.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Robinow M. et al. A newly recognized dwarfing syndrome. Am J Dis Child 1969; 117:649-650.
Smith DW Recognizable patterns of human malformation. Philadelphia: WB Saunders, 1976.
Achondroplasia [...] |
Relapsing Polychondritis (Jaksch Wartenhost Syndrome; Meyenburg-Altherz-Vehlinger Syndrome; Von Meyenberg II Syndrome) [...] |
Ackerman Syndrome [...] |
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