LETHAL SHORT-LIMBED DWARFISM: ACHONDROGENESIS AND THANATOPHORIC DWARFISM
نویسندگان
چکیده
منابع مشابه
Lethal neonatal dwarfism: a case of achondrogenesis.
OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a c...
متن کاملThanatophoric dwarfism.
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the m...
متن کاملCloverleaf Skull and Thanatophoric Dwarfism
Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., and Wollin, D. G. (1971). Archives of Disease in Childhood, 46, 656. Cloverleaf skull and thanatophoric dwarfism: report of four cases, two in the same sibship. Four cases of the cloverleaf skull syndrome are reported, 3 from Britain and 1 from Canada in a family of German/Irish descent. All cases had generalized chondrodysplastic changes a...
متن کاملA new form of hereditary short limbed dwarfism with microcephalus.
Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the ...
متن کاملLethal forms of short limb dwarfism.
Grebe syndrome antenatally because of history of previous two siblings affected with the same disorder and by comparing BPD and length of limb bones. In the affected male fetus the BPD was on the 50th percentile, whereas all the other long bones measured were less than 5th percentile(5,6), thus indicating limb reduction anomaly in the fetus. The family history of 2 previously affected sibs was ...
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ژورنال
عنوان ژورنال: American Journal of Roentgenology
سال: 1971
ISSN: 0361-803X,1546-3141
DOI: 10.2214/ajr.112.1.185