Ectrodactyly/split hand feet malformation
نویسندگان
چکیده
منابع مشابه
Ectrodactyly/split hand feet malformation
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the m...
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A rare case of multifocal cystic tuberculosis of hands and feet is presented in an adolescent female. The presence of multiple lytic areas mimicked secondary metastases and biopsy remained the mainstay for final diagnosis.
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Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since birth. A median cleft was present in the affected hand with absence of the 3rd and 4th digits, giving rise to a characteristic lobster-claw appearance. Functionality of the affecte...
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A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7)(p22q21.3). Inspection of the extremities and chromosome studies in the parents were normal. This case confirms the suggested localisation of a locus, important for early limb d...
متن کاملSplit Hand / Foot Malformation Syndrome with Cerebral Degeneration.
Received; 08.10.2014; Revised: 20.05.2015; Accepted: 02.06.2015 A 36 years old male presented in medicine outpatient department of our hospital with episode of generalized tonic-clonic seizures. History and clinical examination revealed that he was born with deformed hands and feet in the form of absent middle finger in both the upper limbs and syndactyly of great toe and 2nd toe with absence o...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2009
ISSN: 0971-6866
DOI: 10.4103/0971-6866.60191