Cases reported "Abnormalities, Multiple"

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1961/9538. Cardiofaciocutaneous syndrome.

    A boy aged 6 years 10 months with dysmorphic features of the cardiofaciocutaneous syndrome is reported. This patient had early total alopecia, persistent hypotrichosis and an inflammatory hyperkeratotic dermatosis with psoriasiform features occurring predominantly on the scalp, extensor surfaces of limbs and trunk. Bilateral progressive femoral valgus deformity culminated in unilateral hip subluxation. Previously undescribed neuro-ophthalmologic findings are reported. ( info)

1962/9538. Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.

    The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. Autosomal recessive inheritance of this distinct condition has been proposed. We report on a typically affected German boy whose father shows a much milder expression, thus suggesting autosomal dominant inheritance. ( info)

1963/9538. Agnathia-holoprosencephaly with tetramelia.

    Agnathia is a rare malformation which may occur in isolation or with holoprosencephaly, situs inversus or visceral anomalies. A fetus is described with the lethal malformation complex of agnathia-holoprosencephaly in whom tetramelia was also present. ( info)

1964/9538. New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

    Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case. ( info)

1965/9538. A case of human chimerism detected by unbalanced chromosomal translocation.

    chimerism in humans is usually found only because of discrepancies in unique blood group typing or sex chromosome complements. We describe a case found because of an inherited chromosomal translocation. A female carrier of the balanced reciprocal translocation t(14;20)(q31;q13.3) had a twin pregnancy. After birth the B-twin, a girl, was found to have the balanced translocation. The A-twin, a severely malformed and stillborn boy, had two different karyotypes; a normal 46,XY and an unbalanced translocation derivative 46,XY,-14, der(14)t(14;20)(q31;q13.3). He was a dispermic chimera, formed by two fertilized oocytes. ( info)

1966/9538. alopecia, mental retardation, epilepsy and microcephaly in two cousins.

    We report two cousins, born to consanguineous parents, with an alopecia-mental retardation syndrome and the additional features of microcephaly and epilepsy. Similar reported cases are reviewed and genetic heterogeneity is suggested. ( info)

1967/9538. skin mastocytosis, hearing loss and mental retardation.

    A girl with skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features and severe mental retardation is described. The symptoms of the child resemble those reported in 1990 by Wolach et al. in another patient sufficiently to suspect the same entity in both. Inheritance may be autosomal recessive. ( info)

1968/9538. scalp lipomas and cerebral malformations--report of a case and review of the literature.

    A child is reported with a scalp lipoma and underlying bony skull defect and porencephaly. The clinical picture is compatible with a diagnosis of encephalocraniocutaneous lipomatosis, although there is no alopecia overlying the lipoma and no scleral lesions. In addition, this child has unilateral ptosis and syndactyly. This report extends our appreciation of the phenotype of this neurocutaneous disorder. ( info)

1969/9538. Avoidance of emergency surgery in newborn infants with trisomy 18.

    trisomy 18 (Edwards' syndrome) presents with characteristic external features as well as life-threatening abnormalities; many of these abnormalities require surgical correction during the neonatal period. Children with trisomy 18 have a very short life expectancy, and all long-term survivors have severe mental retardation. Difficult medical and ethical issues arise over whether or not to institute treatment when a newborn infant with suspected trisomy 18 has a life-threatening anomaly. We studied the policy of treatment in seven patients with clinical Edwards' syndrome. For three, the period of uncertainty was shortened because trisomy 18 was rapidly diagnosed by karyotyping of a bone-marrow aspirate. Four of the patients underwent surgery before the diagnosis of trisomy 18 was confirmed by routine karyotyping in lymphocytes; karyotyping in bone marrow might have allowed invasive treatment to be avoided in three of these. Rapid confirmation of clinically suspected Edwards' syndrome is very important because surgery may then be withheld. A newborn infant with trisomy 18 should be considered as a patient with a hopeless outlook who ought not to be subjected to invasive procedures. The decision to withdraw or withhold treatment should be discussed frankly with the parents. The period of uncertainty can be reduced to a minimum by the use of karyotyping in bone marrow. ( info)

1970/9538. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21.

    uniparental disomy has been recently recognized as an important phenomenon in non-Mendelian inheritance of human genetic disorders. Several mechanisms for uniparental disomy, i.e., the presence of two homologous chromosomes derived from one parent, have been proposed. We studied two independent cases of abnormalities of chromosome 21 in which there were abnormal karyotypes at birth but blood cells with normal karyotype predominated later in life, and the cells with abnormalities disappeared. Uniparental isodisomy was observed in the normal cells in these individuals. The uniparental disomy in these families was the result of duplication of a chromosome in mitosis after the loss of the homologous abnormal chromosome. The duplication can be seen as mechanism for cell survival and is called here "compensatory" isodisomy, which provided a selective advantage for the cell population with the normal number of chromosomes 21. ( info)
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