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Biomedical subjects

S Manouvrier-Hanu

Publications and source records attributed to S Manouvrier-Hanu.

30 records · Page 2Linked to original sources
PubMed1990

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

Abnormalities, Multiple↗
PubMed1990

[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case].

G.A.P.O. syndrome is a rare autosomal recessive disorder whose main manifestations are growth retardation, alopecia, pseudo-anodontia, and optic atrophy. Optic atrophy has been reported in 30% of affected patients, along with other optic disc and ophthalmological abnormalities, but their causes remain unclear. We report here the ophthalmological findings in a three-year-old girl suffering from typical G.A.P.O. syndrome with ocular abnormalities and bilateral optic atrophy. Physiopathogenic hypotheses are discussed, especially concerning optic disc alterations which are probably due to intraocular hypertension.

Abnormalities, Multiple↗
PubMed1989

Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.

We report on a brother and sister with hyperinsulinism and nesidioblastosis of the pancreas. In addition, one brother and one sister who died in the neonatal period were probably affected. The parents of these children were healthy and consanguineous. We think that this is strongly suggestive of autosomal recessive inheritance. Seven other reports of presumed autosomal recessive hyperinsulinism are reviewed. To our knowledge, we report the first case in sibs whose parents were consanguineous. We think that early recognition of the condition is of obvious importance not only for therapy, but also for purposes of genetic counseling.

Consanguinity↗
PubMed1988

[Ring chromosome 9. Case report and review of the literature].

We report on a girl with ring chromosome 9, and review the 9 other cases of the literature. The main signs of this de novo chromosomal anomaly are: severe microcephaly, growth and psychomotor retardations, and heart malformations. Infectious complications occurs often. We found a decreased level of leucocyte interferon.

Abnormalities, Multiple↗
PubMed1987

The GAPO syndrome.

A new case of GAPO syndrome is described in a 4-year-old Algerian girl born of first-cousin parents. This patient also had a right pyelic kidney stone and cerebral venous circulation anomalies inducing scalp vein expansion.

Abnormalities, Multiple↗
PubMed1983

[Twins].

Explore the source record for details and available documents.

Female↗
PubMedDate not supplied

[Type V acrocephalosyndactylia (Pfeiffer's syndrome). Apropos of 3 cases in the same family].

We report 3 cases of acrocephalosyndactyly V (Pfeiffer syndrome) in the same family. This syndrome is characterized by coronal craniosynostosis with facial dysmorphism and specific malformations of the extremities (wide stubly adducted thumbs). The pattern of inheritance in autosomal dominant. The place of this syndrome is discussed in the group of disorders associated with acrocephalopolysyndactyly.

Abnormalities, Multiple↗