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Biomedical subjects

A M Hanssen

Publications and source records attributed to A M Hanssen.

4 recordsLinked to original sources
PubMed1995

Cowden syndrome.

Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas.

Diagnosis, Differential↗
PubMed1993

Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.

We report Cowden syndrome in a large four-generation family, paying special attention to the apparently greater severity and earlier onset of signs and symptoms in subsequent generations. Macrocephaly was present in all affected individuals and was markedly progressive in three of six affected children of the fourth generation, and associated with slight to moderate delay in psychomotor development.

Adult↗
PubMed1992

Fryns syndrome: another example of non-lethal outcome with severe mental handicap.

In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In patients with Fryns syndrome presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; mental retardation is present in all four patients described so far. This report illustrates, once more, the great intrafamilial variation of the syndrome and emphasises its important consequences for genetic counseling and prenatal diagnosis.

Abnormalities, Multiple↗