29 Cohen Syndrome
CHS1, Pepper syndrome
Hypotonia, obesity, prominent incisors, mental retar- dation, narrow hands and feet, characteristic facies Frequency: Rare (more than 100 published cases).
Genetics
Autosomal recessive (OMIM 216550); CHS1 gene mapped to 8q22–23.
Clinical Features
• Mild mental retardation, hypotonia, seizures, so- ciable personality
• Microcephaly
• Antimongoloid slant of palpebral fissures
• Chorioretinal dystrophy, optic atrophy, hemer- alopia, constricted visual fields, myopia
• High nasal bridge
• Malar hypoplasia
• Short philtrum
• Prominent maxillary central incisors, open mouth with exposed upper gingiva and upper central incisors, prominent lips
• Narrow hands and feet, elongated fingers and toes
• Truncal obesity
• Granulocytopenia Differential Diagnosis
• Prader-Willi syndrome
Radiographic Features Skull
• Microcephaly
• Maxillary hypoplasia
• Mild micrognathia
Extremities
• Cubitus valgus
• Genu valgum
• Mild shortening of metacarpals and metatarsals
• Mild syndactyly of fingers Spine
• Lumbar lordosis, mild scoliosis
Bibliography
Friedman E, Sack J. The Cohen syndrome: report of five new cases and a review of the literature. J Craniofac Genet Dev Biol 1982; 2: 193–200
Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, van den Berghe H. Cohen syndrome: the clinical symptoms and stigmata at a young age. Clin Genet 1996; 49: 237–41 Kivitie-Kallio S, Eronen M, Lipsanen-Nyman M, Marttinen E,
Norio R. Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. Clin Genet 1999; 56:
41–50
North C, Patton MA, Baraitser M, Winter RM: The clinical features of Cohen syndrome: further case reports. J Med Genet 1985; 22:131–4
Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A. Cohen syndrome gene as- signed to the long arm of chromosome 8 by linkage analy- sis. Nat Genet 1994; 7: 201–4
Young ID, Moore JR. Intrafamilial variation in Cohen syn- drome. J Med Genet 1987; 24: 488–92
Cohen Syndrome 662
Cohen Syndrome 663
C
Fig. 29.1 a–c. Patient 1, adolescent.
Microcephaly, high nasal bridge, prominent maxillary central inci- sors, truncal obesity, narrow hands, elongated fingers. (From archive of Dr. P. Balestrazzi, Uni- versity of Parma, Italy, with per- mission)
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