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  • Title: Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
    Author: Van Maldergem L, Gillerot Y, Godhaird M, Nemec E, Koulischer L.
    Journal: Clin Genet; 1990 Nov; 38(5):359-61. PubMed ID: 2282715.
    Abstract:
    A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.
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