Fryns syndrome.
نویسندگان
چکیده
منابع مشابه
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent for...
متن کاملCardiovascular malformations in Fryns Syndrome A case report
Fryns syndrome is characterized by multiple congenital anomalies including congenital diaphragmatic hernia (CDH), and congenital heart disease (CHD).The prognosis of infant with Fryns syndrome and left sided CDH when associated with pulmonary hypoplasia is grave. We report a 2year old boy with Fryns syndrome who had right sided CDH, Tetralogy of Fallot, and other multiple congenital anomalies. ...
متن کاملTwo fetuses with Fryns syndrome without diaphragmatic defects.
We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...
متن کاملAtypical Fryns syndrome: clinical, radiological and pathological findings.
Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and b...
متن کاملLETTER TO JMG Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
Background: Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic coun...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.2.135