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Biomedical subjects

B G Kousseff

Publications and source records attributed to B G Kousseff.

At least 91 records · Page 5Linked to original sources
PubMed1981

Cohen syndrome: further delineation and inheritance.

Four sibs, 2 males and 2 females, were found to have the Cohen syndrome. All had moderate mental retardation, microcephaly, hypotonia, and narrow hands and feet with elongated fingers and toes; 3 were short of stature (2.0-3.5 SD below the mean) with weight between 10th and 50th centile and truncal obesity. Most of the facial characteristics of the syndrome were present: exotropia, prominent ears, short philtrum, and high nasal bridge. Each manifestation varied in severity from one sib to the other. The younger girl also had rheumatoid arthritis. Mild delay of puberty was described in 3 of the sibs. However, one of them has delivered a male infant with normal appearance whose psychomotor development has been normal (as of 9 months). No endocrine problems were documented in the sibship. All patients had normal chromosomes. The data on this sibship support the hypothesis of autosomal recessive inheritance of the Cohen syndrome. Microcephaly and short stature should be stressed as frequent manifestations of the syndrome. The variable expressivity, even among sibs, may be responsible for the paucity of reports on the mildest forms of the Cohen syndrome.

Adolescent↗
PubMed1981

Ehlers-Danlos syndrome and epidermolysis bullosa in the same family.

A clinical genetic study of a family is presented in which the mother and daughter were diagnosed as having Ehlers-Danlos syndrome, Type III, and the son was diagnosed as having epidermolysis bullosa. Ehlers-Danlos syndrome and epidermolysis bullosa are presented as genetic entities which might possibly have a causal relationship. It is suggested that physicians look for signs and symptoms of Ehlers-Danlos syndrome in infants with epidermolysis bullosa.

Child, Preschool↗
PubMed1981

Prenatal diagnosis of hypophosphatasia.

An obligate heterozygote for hypophosphatasia, gravida 3, para 2, had previously delivered a female infant who had shortening of the extremities and could not maintain respirations because of the pliability of the thorax. The infant had undermineralization of the skeleton, low serum alkaline phosphatase activity, and increased urinary phosphoethanolamine excretion; autopsy corroborated the diagnosis of congenital lethal hypophosphatasia. For the current pregnancy, uterine sonograms demonstrated adequate growth of the head and limbs, amniotic fluid cell culture showed normal alkaline phosphatase activity; and confirmatory radiographic study showed adequate mineralization of the skeleton. A healthy female infant was delivered. Prenatal diagnosis of congenital hypophosphatasia is available, and the triad of ultrasonography, alkaline phosphatase determination in the amniotic fluid cell culture, and radiography of the fetus is reliable in establishing the diagnosis.

Adult↗
PubMed1976

Fucosidosis type 2.

Two siblings, 9 and 4 1/2 years old, had alpha-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facila features, and dysostosis multiplex. It appears that genetic heterogeneity is present in fucosidosis; there are at least two types. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. Quantitative studies on erythrocytes and in saliva disclosed severely increased expressions of Lea and Leb. Biopsies of skin and gingiva showed alterations as seen in angiokeratoma. There was also evidence of lysosomal storage in vascular endothelium, eccrine sweat gland epithelium, and fibroblasts of the skin.

Adult↗
PubMed1975

Roentgenographic findings in fucosidosis type 2.

The roentgen findings are described in 2 siblings with fucosidosis Type 2. They have mild dysostosis multiplex with predominant involvement of the spine, pelvis, and femoral capital epiphyses. The roentgen descriptions of the previously reported cases are reviewed. Based on the descriptive data currently available, there are no consistent differences which would permit the distinction of fucosidosis Type 1 from Type 2 on roentgen grounds.

Age Determination by Skeleton↗
PubMed1975

Balanced translocation in fetal wastage.

A balanced reciprocal translocation involving the long arms of a No. 4 and a No. 11 chromosome, t(4;11) (q25;q13), was found in a mother who had one spontaneous first trimester abortion and 2 abnormal infants, as well as in her 2 phenotypically normal children. This translocation was not detectable by conventional karotyping since the two exchanged chromosome segments are almost identical in size; it was demonstrated by the new banding technic which allow us to recognize and to identify each chromosome and its segments accurately.

Abortion, Spontaneous↗
PubMedDate not supplied

Overgrowth management in Klippel-Trenaunay-Weber and Proteus syndromes.

Twenty-eight patients with limb overgrowth and the diagnosis of Klippel-Trenaunay-Weber or Proteus syndromes were evaluated retrospectively. These disorders are part of the phakomatosis spectrum of syndromes. The orthopedic problems consisted of asymmetric limb overgrowth, localized gigantism, angular deformities, scoliosis, vascular malformations, and skin anomalies. Systemic abnormalities are common and deserve full evaluation before treatment. Surgical treatment consisted of epiphysiodesis, osteotomies, debulking procedures, and amputation. Mixed results were obtained with surgery, and conservative or supportive treatment should be the primary mode of orthopedic care.

Adolescent↗
PubMedDate not supplied

Ankyloblepharon filiforme adnatum in trisomy 18.

Ankyloblepharon filiforme adnatum (AFA) is a mild form of ankyloblepharon, in which there is partial thickness fusion of the central portion of the lid margins, sparing the canthi. Although it can be seen as an isolated sporadic congenital defect, it is important for pediatric ophthalmologists to be cognizant of its possible association with a number of anomalies. One infrequent, but nevertheless important association, is with trisomy 18. We present three cases of AFA in association with trisomy 18, and emphasize the need for clinicians to search for other abnormalities in a newborn presenting with AFA.

Adult↗