Prenatal diagnosis of type A1 brachydactyly
نویسندگان
چکیده
منابع مشابه
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
Mi-Ae Jang, M.D.*, Ok-Hwa Kim, M.D., Sun Wook Kim, M.D., and Chang-Seok Ki, M.D. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Radiology, Woorisoa Children’s Hospital, Seoul; Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University S...
متن کاملA novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملLETTERS TO JMG A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملRecessively inherited brachydactyly type C.
The Bell classification of brachydactyly' divides this group of conditions into types Al to A5, B, C, D, and E. Fitch2 in 1979 suggested that types A4 to A5 be omitted because the latter is indistinguishable radiologically from type B, while type A4 is possibly a mild expression of Al. She suggested that type E should be further subdivided depending on which metacarpals are involved. The table ...
متن کاملPrenatal diagnosis of osteogenesis imperfecta type II.
OBJECTIVE To characterize the prenatal sonographic features of osteogenesis imperfecta (OI) type II. DESIGN Descriptive (case series). SETTING Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS Six fetuses with prenatal diagnosis of OI were evaluated. RESULTS Six fetuses were prenatally diagnosed as OI type I...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2001
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.2001.00428.x