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Literature DB >> 3656371

Intrafamilial variation in Cohen syndrome.

Abstract

Three sibs with Cohen syndrome are presented. Abnormalities present in all three children include mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. The older two sibs have a similar facies and an engaging personality. The youngest child shows a different facial appearance and marked behavioural problems, thereby illustrating the intrafamilial variability which may occur in this disorder.

Entities: Disease Species

Mesh：

Year: 1987 PMID： 3656371 PMCID： PMC1050206 DOI： 10.1136/jmg.24.8.488

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

8 in total

1. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

Authors: M M Cohen; B D Hall; D W Smith; C B Graham; K J Lampert
Journal: J Pediatr Date: 1973-08 Impact factor: 4.406

2. The clinical features of the Cohen syndrome: further case reports.

Authors: C North; M A Patton; M Baraitser; R M Winter
Journal: J Med Genet Date: 1985-04 Impact factor: 6.318

3. The Cohen syndrome: clinical and endocrinological studies of two new cases.

Authors: P Balestrazzi; L Corrini; G Villani; M P Bolla; F Casa; S Bernasconi
Journal: J Med Genet Date: 1980-12 Impact factor: 6.318

4. The Coffin-Lowry syndrome. Experience from four centres.

Authors: A G Hunter; M W Partington; J A Evans
Journal: Clin Genet Date: 1982-05 Impact factor: 4.438

5. The Cohen syndrome: report of five new cases and a review of the literature.

Authors: E Friedman; J Sack
Journal: J Craniofac Genet Dev Biol Date: 1982

6. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.

Authors: R Norio; C Raitta; E Lindahl
Journal: Clin Genet Date: 1984-01 Impact factor: 4.438

7. The Cohen syndrome.

Authors: J P Fryns; H Van den Berghe
Journal: J Genet Hum Date: 1981-12

8. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

Authors: T Goecke; F Majewski; K D Kauther; U Sterzel
Journal: Eur J Pediatr Date: 1982-07 Impact factor: 3.183

8 in total

6 in total

Intrafamilial variation in Cohen syndrome.

1. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

2. The clinical features of the Cohen syndrome: further case reports.

3. The Cohen syndrome: clinical and endocrinological studies of two new cases.

4. The Coffin-Lowry syndrome. Experience from four centres.

5. The Cohen syndrome: report of five new cases and a review of the literature.

6. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.

7. The Cohen syndrome.

8. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

1. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

2. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

3. Behavioural characteristics and autistic features in individuals with Cohen Syndrome.

4. The ophthalmic findings in Cohen syndrome.

5. Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.

6. Growth hormone deficiency in a girl with the Cohen syndrome.