Radial aplasia with oligodactyly
نویسندگان
چکیده
منابع مشابه
Radial aplasia with oligodactyly
Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. 6. Amiel J, Attiee-Bitach T, Marianowski R. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124-7. 7. Al Frayh AR, Haque KN. Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive and developme...
متن کاملA Japanese Male Patient with ‘Fibular Aplasia, Tibial Campomelia and Oligodactyly’: An Additional Case Report
We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrom...
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A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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We report a 10 year old girl with congenital thrombocytopenia with absent radii (TAR) syndrome. Unusually this patient has shown no abnormal bleeding tendency despite numerous orthopaedic procedures. There is evidence of an associated immune component to the thrombocytopenia which has not been previously documented.
متن کاملA rare case of Goldenhar syndrome with radial aplasia.
Goldenhar syndrome (GS) is a well-recognised condition characterised by variable degree of uni- or bilateral involvement of craniofacial structures involving first and second branchial arches manifesting ocular and auricular anomalies and also vertebral defect. This syndrome presents at birth and its exact aetiology is still unknown. The affections of the neural crest cells may have some role i...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2008
ISSN: 0971-6866
DOI: 10.4103/0971-6866.42326