Heredity of Microcephaly Mental Retardation and Spastic Diplegia Syndrome
نویسندگان
چکیده
Genetic consultation was given to three children with microcephaly, mental retardation, and spastic diplegia.
منابع مشابه
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.
The combination of microcephaly, spasticity, and profound mental retardation is usually found in children with severe perinatal asphyxia or congenital infection. These children are commonly diagnosed as having cerebral palsy. However, in some children there is no evidence of a perinatal insult and there may be familial recurrence. The London Dysmorphology Database offers 104 genetic syndromes t...
متن کاملAn autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous fa...
متن کاملDistal aphalangia, microcephaly and mental retardation.
A 3-year old boy from Hatton presented with generalised convulsions. He was the third child born to consanguineous parents. The antenatal and perinatal period of this child had been normal. At 3 months of age he developed generalised convulsions and was treated with phenobarbitone at the Nawalapitiya Base Hospital. However, subtle seizures persisted at a frequency of about 1 or 2 seizures a mon...
متن کاملAutosomal dominant microcephaly with mental retardation.
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosom...
متن کاملWhite Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...
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ژورنال
عنوان ژورنال: European journal of therapeutics
سال: 2023
ISSN: ['2564-7040', '2564-7784']
DOI: https://doi.org/10.58600/eurjther.1995-6-1-1569-arch