Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation
نویسندگان
چکیده
منابع مشابه
Urogenital anomalies associated with anorectal malformation
Background: The objective of the paper is to review the incidence and types of associated urogenital anomalies (U.G.A.) we encountered in patients with anorectal malformations (A.R.M.) and compare the results with previously published world literature. Materials and Methods: Retrospective review was done of 220 cases of A.R.M., treated from May 2002 to April 2003. All patients routinely underwe...
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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...
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A 7-days-old male neonate with anorectal malformation (ARM) presented with abdominal distension and bleeding per rectum. He had an operation for ARM (Anoplasty) a day after birth and the patient had history of passing stool normally for two days. It was followed by blood mixed stool and abdominal distension. On examination, the patient had features of mild dehydration and sepsis. The abdomen wa...
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Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملAnorectal malformation: familial aspects and associated anomalies.
One hundred and sixty nine patients with anorectal malformation were studied: there were 108 boys, 60 girls, and one case of intersex. Low malformations were more common in both sexes. Over half the subjects had associated malformations. These were more common in the group with high malformations. There was no difference between the sexes in this respect. A family history of similar malformatio...
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ژورنال
عنوان ژورنال: International Journal of Colorectal Disease
سال: 2013
ISSN: 0179-1958,1432-1262
DOI: 10.1007/s00384-013-1725-6