Pathogenesis of split-hand/split-foot malformation
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 کاملBilateral split hand/foot malformation and inv(7)(p22q21.3).
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...
متن کاملSplit hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.
A 17-year-old man, the third child of physically normal parents, was diagnosed with a case of cleft hand (lobster hand) in our outpatient department during a routine visit. He was born with deformed hands and feet in the form of syndactyly of thumb with the index finger in the upper limbs. He had a median cleft of the hands (figures 1–3). There was no facial dysmorphism in the patient. He had a...
متن کاملSplit-Hand/Foot Malformation with Long Bone Deficiency 1
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...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 1460-2083
DOI: 10.1093/hmg/ddg090