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Biomedical subjects

F Serville

Publications and source records attributed to F Serville.

80 records · Page 5Linked to original sources
PubMedDate not supplied

[Neck edema. An echographic sign of trisomy 21 in pregnancy].

Ultrasound examination was performed in a 45 year-old pregnant woman at 17 weeks gestation. A morphologic abnormality was seen of the nape which could not be interpreted. Amniocentesis could not be performed. Termination of pregnancy by hysterotomy was carried out. Postmortem examination showed an intact fetus with a soft tissue thickening at the back of the neck and a ventricular septal defect. Chromosomal analysis was reported as 47,XY,+21. This case demonstrates that an excess of skin of the foetal nape can be seen at ultrasound examination and may suggest a Down syndrome.

Abortion, Therapeutic↗
PubMedDate not supplied

[Gonadal dysgenesis in a mother and her daughter (author's transl)].

The authors present two cases of gonadal dysgenesis in a mother and her daughter. Caryotypes were 46, XX/45, X for the mother (RHG-banding) and 46, X, i (Xq)/45, X for the daughter. Some researches in family did not show any abnormalities to explain this very exceptionnel event in a mother and one of her 3 daughters.

Adolescent↗
PubMedDate not supplied

[Anatomo-pathologic diagnosis of neonatal malformations of the urinary tract. 1: Malformations of the kidney parenchyma].

Congenital anomalies of the urinary tract are of great pathological importance and account for about 10,9 per cent of all fetal and neonatal autopsies. This paper reports 17 cases of such lesions compiled from 156 consecutive autopsies of newborn infants performed during 33 months at C.H.R. de Bordeaux (France). Each malformation is discussed, using embryological classification. These lesions can occur independently but usually they are associated with other organ abnormalities. Whenever, an hereditary syndrome must be seek after. In a first part, we present the anomalies of the kidney proper. In a second part, we shall present the anomalies of the excretory apparatus, bladder and urethra.

Abnormalities, Multiple↗
PubMedDate not supplied

[Anatomo-pathological diagnosis of neonatal malformations of the urinary tract. II. Excreto-urinary tract malformations].

Congenital anomalies of the urinary tract are of great pathological importance and account for about 10.9 per cent of all fetal and neonatal autopsies. This paper reports 17 cases of such lesions compiled from 156 consecutive autopsies of newborn infants performed during 33 months at C.H.R. de Bordeaux. Each malformation is discussed, using embryological classification. These lesions can occur independently but usually they are associated with other organ abnormalities. Whenever, an hereditary syndrome must be seek after. In a first part, we have presented the anomalies of the kidney proper. In a second part, we shall present the anomalies of the excretory apparatus, bladder, and urethra.

Abnormalities, Multiple↗
PubMedDate not supplied

[Coffin-Lowry syndrome and hyperprolinemia].

BACKGROUND: The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult. CASE REPORT: A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria. CONCLUSION: The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.

Abnormalities, Multiple↗