cohen syndrome is neither uncommon nor new

Cohen syndrome is neither uncommon nor new
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  • American Journal of Medical Genetics 53:202 (1994)

    Letter to the Editor

    Cohen Syndrome Is Neither Uncommon nor New

    To the Editor:

    Partington and Anderson 119941 reported on 3 pa- tients in an article entitled New Syndrome: mild growth retardation and developmental delay, micro- cephaly, and a distinctive facial appearance. Their data in connection with excellent facial pictures of Patient 1 show without doubt that a t least the sibs, Patients 1 and 2, have the Cohen syndrome [Cohen et al., 1973; Norio et al., 19841.

    The following manifestations reported in the article are seen in the Cohen syndrome: low birth weight, psy- chomotor retardation with slow development of speech, microcephaly, growth retardation, hypotonia, motor clumsiness, friendly personality, thick hair, eyebrows and eyelashes, cardiac systolic murmur without appar- ent structural abnormality, and myopia.

    Visible in the pictures of Patients 1 and 2, are beautiful, wave- or flame-shaped outline of the eyelid opening, prominent root of nose, short philtrum, open-mouth appearance with prominent upper cen- tral incisors, and small ear lobuli.

    I would be greatly interested to learn whether the pa- tients also have slender hands and feet, pes planus andor genua valga, highharrow palate, broad gap be- tween toes I and 11, and, especially, further ophthalmo- logical findings in addition to myopia, and granulocy- topenia. The expected ophthalmological findings are symptoms of hemeralopia and narrowing visual fields, decreased visual acuity, chorioretinal dystrophy with bulls eye maculae and pigmentary deposits, and extin- guished electroretinogram. Because these patients are young, all these findings may not be noticeable as yet.

    According to the experience in Finland (20 patients), the progression of the retinitis pigmentosa-like symp- tomatology is slow; not one of the patients is blind even after age 50 years. Leukopenia and notably granulocy- topenia are intermittent and cause no harm to the pa- tients.

    About 100 cases with the Cohen syndrome have been reported from different parts of the world. To my knowl- edge, the patients of Partington and Anderson are the first reported from Australia. Whether Patient 3 in their report has the Cohen syndrome, cannot be judged for certain in the facial pictures. This diagnosis is diffi- cult to make in infants.

    The problems of heterogeneity in the Cohen syn- drome and, especially, whether the ophthalmological symptomatology and granulocytopenia are essential, are not solved yet. However, patients with complete ophthalmological symptomatology [Raitta and Norio, 19901 have been described not only from Finland but also from at least Denmark [Warburg et al., 19901, Ger- many [Steinlein et al., 19911, Japan [Kondo et al., 19901, and the USA [Resnick et al., 19861.

    NOTE ADDED IN PROOF The gene of the Cohen syndrome has recently been

    mapped in 11 Finnish patients to the long arm of chro- mosome 8 [Tahvanainen et al., 19941. This is of sub- stantial help in solving the problem of heterogeneity in the Cohen syndrome.

    REFERENCES Cohen MM, J r , Hall BD, Smith DW, Graham CB, Lambert KJ (1973):

    A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 83280-284.

    Kondo I, Nagatagi S, Miyagi N (1990): The Cohen syndrome: Does mottled retina separate a Finnish and Jewish type? Am J Med Genet 37:109-113.

    Norio R, Raitta C, Lindahl E (1984): Further delineation of the Cohen syndrome; Report on chorioretinal dystrophy, leukopenia and con- sanguinity. Clin Genet 251-14.

    Partington M, Anderson D (1994): New Syndrome: Mild growth retar- dation and developmental delay, microcephaly, and a distinctive facial appearance. Am J Med Genet 49:247-250.

    Raitta C, Norio R (1990): Cohens syndrome. In Gold DH, Weingeist TA (eds): The Eye in Systemic Disease. Philadelphia: J B Lippin- cott Co., pp 565-568.

    Resnick K, Zuckerman J, Cotlier E (1986): Cohen syndrome with bulls eye macular lesion. Ophthal Paediatr Genet 7:1-18.

    Steinlein 0, Tariverdian G, Boll HU, Vogel F (1991): Tapeto retinal degeneration in brothers with apparent Cohen syndrome: Nosol- ogy with Mirhosseini-Holmes-Walton syndrome. Am J Med Genet 41: 196-200.

    Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A (1994): Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nature Genetics 7:201-204.

    Warburg M, Pedersen SA, Horlyk H (1990): The Cohen syndrome; Retinal lesions and granulocytopenia. Ophthal Paediatr Genet 11:7-13.

    Reijo Norio Department of Medical Genetics The Family Federation of Finland Vaestoliitto Helsinki, Finland

    Received for publication January 21, 1994. Address reprint requests to Prof. Reijo Norio, M.D. Dept. of

    Medical Genetics, The Family Federation of Finland Vaestoliitto, Kalevankatu 16, FIN-00100 Helsinki, Finland.

    0 1994 Wiley-Liss, Inc.