Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission.

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Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission.

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...

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A Hereditary Congenital Anomaly with Autosomal Recessive Transmission

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...

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A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

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...

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Autosomal recessive congenital ichthyosis.

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...

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Missed Congenital Pyloric Atresia with Gastric Perforation in a Neonate

Congenital pyloric atresia is a rare anomaly accounting for less than 1% of upper GI atresias. It may occur in isolation or in association with other congenital anomalies, epidermolysis bullosa being the most frequent. It presents with upper abdominal distension, non-bilious vomiting or rarely with complications as aspiration pneumonia, electrolyte imbalance or gastric perforation. Though iatro...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1972

ISSN: 1468-6244

DOI: 10.1136/jmg.9.1.70