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Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive
L Van Maldergem1, Y Gillerot, M Godhaird
1Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.
Clinical Genetics
|November 1, 1990
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.