ABSTRACT
We report on the first known Bedouin family with Greig cephalopolysyndactyly syndrome (MIM 175700). The index patient and his father shared pre- and postaxial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. Their phenotypic findings were compared with reported cases of both Greig cephalopolysyndactyly (GCPS) and acrocallosal syndromes. This family represents the second report of the rare occurrence of dysgenesis of the corpus callosum in GCPS.
Subject(s)
Abnormalities, Multiple , Agenesis of Corpus Callosum , Arabs , Syndactyly , Adult , Craniofacial Abnormalities , Female , Humans , Infant, Newborn , Intellectual Disability , Male , Polydactyly , SyndromeABSTRACT
In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.
Subject(s)
Institutionalization , Intellectual Disability/genetics , Abnormalities, Multiple , Adolescent , Adult , Child , Child, Preschool , Chromosome Aberrations , Chromosome Disorders , Consanguinity , Female , Health Surveys , Humans , Intellectual Disability/etiology , Kuwait , Male , Pedigree , SyndromeABSTRACT
A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.
Subject(s)
Abnormalities, Multiple/genetics , Ectromelia/genetics , Mullerian Ducts/abnormalities , Pelvic Bones/abnormalities , Adolescent , Adult , Consanguinity , Female , Genes, Recessive , Humans , Infant, Newborn , Iraq , Male , SyndromeSubject(s)
Amino Acid Metabolism, Inborn Errors/epidemiology , Intellectual Disability/etiology , Adolescent , Adult , Amino Acid Metabolism, Inborn Errors/complications , Child , Cystathionine/urine , Female , Homocystinuria/complications , Homocystinuria/epidemiology , Humans , Kuwait/epidemiology , Lysine/analogs & derivatives , Lysine/metabolism , Male , Phenylketonurias/complications , Phenylketonurias/epidemiologyABSTRACT
We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. Analysis of the present and previously reported cases showed a wide range of interfamilial variability which may point to the existence of multiple allelism or genetic heterogeneity in this syndrome.
Subject(s)
Glioma/genetics , Heart Defects, Congenital/genetics , Osteoporosis/genetics , Child, Preschool , Female , Genes, Recessive , Glioma/congenital , Humans , Infant , Intellectual Disability/genetics , Male , Osteoporosis/congenital , Osteoporosis/diagnostic imaging , Radiography , SyndromeABSTRACT
Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17,318 live births, making an incidence of 4.61/10,000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.
Subject(s)
Chromosomes, Human, Pair 18 , Trisomy , Female , Humans , Infant, Newborn , Kuwait , MaleABSTRACT
We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases.
