Congenital Stippled Epiphyses
نویسندگان
چکیده
Caffey (1950) suggested the term 'congenital stippled epiphyses' for a syndrorm consisting of achondroplasia, radiologial evidence of discrete centres of calcification in cartilaginous epiphyses, together with cataracts and mental deficwiency. The condition was first described by Conradi (1914) under the title 'Chondrodystrophia Foetalis Hypoplastica', and was reviewed by Ford, Schneider and Brandon (1951). Below is a case record, presenting some unusual features, with necropsy findings.
منابع مشابه
Congenital stippled epiphyses.
Caffey (1950) suggested the term 'congenital stippled epiphyses' for a syndrorm consisting of achondroplasia, radiologial evidence of discrete centres of calcification in cartilaginous epiphyses, together with cataracts and mental deficwiency. The condition was first described by Conradi (1914) under the title 'Chondrodystrophia Foetalis Hypoplastica', and was reviewed by Ford, Schneider and Br...
متن کاملThe congenital warfarin syndrome: a case report.
A case is reported of a baby born with congenital abnormalities due to maternal ingestion of warfarin during pregnancy. Warfarin is known to be teratogenic, producing characteristic abnormalities, namely a hypoplastic nose, stippled epiphyses, and skeletal abnormalities. A variety of ocular abnormalities have been reported. Ophthalmologists should seek a history of maternal warfarin ingestion w...
متن کاملFetal warfarin syndrome.
Fetal warfarin syndrome (FWS) or warfarin (coumadin) embryopathy is a rare condition as a result of fetal exposure to maternal ingestion of warfarin during pregnancy. A male infant, whose mother was treated with the anticoagulant (warfarin) because of a mechanical heart valve replacement after rheumatic heart disease, presented with signs of warfarin embryopathy. The facial dysmorphism included...
متن کاملRhizomelic Chondrodysplasia Punctata Type I
Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with stippled epiphyses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ve...
متن کاملX-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.
Chondrodysplasia punctata represents clinically and genetically a heterogeneous group of disorders characterized by the presence of multiple congenital anomalies and stippled epiphyses. We present clinical course of the disease and the results of metabolic, X-ray and molecular analyses in 19-months old girl with X-linked dominant chondrodysplasia punctata with intrauterine growth retardation, c...
متن کامل