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Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance
Author(s) -
Maldergem L.,
Gillerot Y.,
Godhaird M.,
Nemec E.,
Koulischer L.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03595.x
Subject(s) - dwarfism , microcephaly , medicine , facial dysmorphism , anatomy , achondroplasia , hypertrichosis , supernumerary , biology , genetics , pediatrics , gene , phenotype
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.