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Biomedical subjects

A Garau

Publications and source records attributed to A Garau.

24 records · Page 2Linked to original sources
PubMedDate not supplied

[Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].

Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).

Abnormalities, Multiple↗
PubMedDate not supplied

[Wiedemann-Beckwith syndrome in childhood].

A follow up examination was carried out in a 10 year old child who had been diagnosed as having Wiedemann-Beckwith syndrome soon after birth. Macrosomy was seen to persist and body asymmetry and some dysmorphic aspects had become more pronounced over the years. The presence of moderate mental deficiency had led to difficulty in social relationships. In the prepuberty phase, the reappearance of hypoglycemia crises, which were also noted in the neonatal age, was of particular interest.

Beckwith-Wiedemann Syndrome↗
PubMedDate not supplied

[Cytogenetic and clinical aspects of Prader-Willi syndrome].

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.

Child↗