Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome.
نویسندگان
چکیده
منابع مشابه
Joint contractures and diabetic retinopathy.
It has been suggested that joint contractures may be an early marker of microangiopathy, especially retinopathy, in diabetic patients. To investigate this possibility, the prevalence of contractures of the finger joints, as assessed by the painted hand technique, was compared in 106 diabetic patients without, and 105 with retinopathy (proliferative in 66%). There was an increased prevalence of ...
متن کاملA new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.
Received 4 May 1995 Accepted for publication 1 June 1995 Abstract We describe a girl ofPakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blephar...
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Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome [4] (FAS) was first defined in 1973 as a condition characterized by preand postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system [5]...
متن کاملFacial Abnormalities of Fetal Alcohol Syndrome (FAS)
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome [4] (FAS) was first defined in 1973 as a condition characterized by preand postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system [5]...
متن کاملFacial Abnormalities of Fetal Alcohol Syndrome (FAS)
Prenatal exposure to alcohol (ethanol) results in a continuum of physical, neurological, behavioral, and learning defects collectively grouped under the heading Fetal Alcohol Spectrum Disorder (FASD). Fetal Alcohol Syndrome [4] (FAS) was first defined in 1973 as a condition characterized by preand postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system [5]...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.8.532