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Biomedical subjects

L Vinken

Publications and source records attributed to L Vinken.

14 recordsLinked to original sources
PubMed1994

Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?

Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with down-turned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus.

Abnormalities, Multiple↗
PubMed1993

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.

Adult↗
PubMed1984

The Coffin-Lowry syndrome. A study of two new index patients and their families.

Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.

Adult↗
PubMed1979

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype.

Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band.

Abnormalities, Multiple↗
PubMed1978

The Aarskog syndrome.

In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

Abnormalities, Multiple↗
PubMed1977

The Coffin syndrome.

Two brothers with Coffin syndrome are presented and the fifteen other cases availabe in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.

Abnormalities, Multiple↗