Split-hand/split-foot malformation associated with maternal valproate consumption
نویسندگان
چکیده
منابع مشابه
Split-hand/split-foot malformation associated with maternal valproate consumption.
Neurology India | June 2005 | Vol 53 | Issue 2 tions or consanguinity. Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod, presenting with syndactyly, median clefts in hand or foot and aplasia or hypoplasia of metacarpals or metatarsals. Failure to maintain median apical ectodermal ridge (AER) signaling is the main pathogenic mechanism for...
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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Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) also known as long bone deficiency is a rare and severe lower limb malformation, with an incidence of approximately 1:1,000,000 live births. It is characterized by lack of part or the entire tibia, with relatively intact fibula. Usually the affected leg is rotated externally and the ventral surface of the foot faces th...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
متن کاملMulticystic Renal Dysplasia in a Child with Split Hand/Split Foot Malformation
Split hand/split foot malformation is a human developmental disorder characterized by missing central digits and other distal limb malformations. Multicystic renal dysplasia is the most common cause of an abdominal mass in the new born period and is the most common cystic malformation of the kidney in infancy. Here, we report a case of split hand/split foot malformation with a submucosed cleft ...
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ژورنال
عنوان ژورنال: Neurology India
سال: 2005
ISSN: 0028-3886
DOI: 10.4103/0028-3886.16438