American Journal of Medical Genetics 41:196-200 (1991)
Tapetoretinal Degeneration in Brothers With Apparent Cohen Syndrome: Nosology With Mirhosseini-Holmes-WaltonSyndrome 0. Steinlein, G. Tariverdian, H.U. Boll, and F. Vogel Institute of Human Genetics, University of Heidelberg, Heidelberg, (O.S., G.T., F.V.), and Johannes Anstalten Mosbach (H.U.B.),Mosbach, Germany ~
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We report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Waltonsyndromes. In accordance with Norio and Raitta (Norio R, Raitta C (1986): Am J Med Genet 25397-3981 we come to the conclusionthat these 2 syndromes constitute one clinical but possibly heterogeneous entity. KEY WORDS: histopathological investigation, clinical heterogeneous entity, marked eye anomalies INTRODUCTION In 1973, Cohen et al. reported on 3 patients with mental retardation, microcephaly, obesity, characteristic craniofacial changes, and narrow hands and feet. In their description mottled retinal pigment, coloboma, myopia, and microphthalmia were mentioned. The variability in subsequently published cases is great. In 1984, Norio et al. added chorioretinal dystrophy as an important manifestation of the Cohen syndrome. Most of the published patients with Cohen syndrome have eye anomalies, such as cataract, retinal pigmentary changes, and myopia. Chorioretinopathy has been described in 40% of the reported patients. This estimate might be too low, because the severe mental retardation impedes an exact ophthalmological examination. In 1972, Mirhosseini et al. described 2 brothers with microcephaly, mental retardation, and retinal pigmentary degeneration. A second report of this so-called Mirhosseini-Holmes-Walton syndrome was given by Mendez et al. [19851 who described 2 sisters who also had Received for publication July 6,1990; revision received February 14, 1991. Address reprint requests to Dr. 0. Steinlein, Institut fur Humangenetik und Anthropologie der Universitat, Heidelberg, Im Neuenheimer Feld 328, D-6900 Heidelberg, Federal Republic of Germany.
0 1991 Wiley-Liss, Inc.
cerebral palsy, clinodactyly, cutaneous syndactyly, and truncal obesity. We now report on 2 brothers with apparent Cohen syndrome, and severe involvement of the eyes, and discuss the similarity between the Cohen and the Mirhosseini-Holmes-Waltonsyndromes. In addition we give, to the best of our knowledge, the first description of histopathological investigations of the eye in this syndrome.
CLINICAL CASE REPORTS The 2 affected brothers are the 3rd and 4th of 5 children of non-consanguineous Caucasian parents. The family history was unremarkable. The early death of the father resulted from alcoholism; the mother and 3 sibs are healthy and intellectually normal (Fig. 1). Patient 1 R.Z., 30 years old, is severely mentally retarded without speech. He has no signs of deafness and has some, albeit reduced, speech comprehension. He is 155 cm tall (
Tapetoretinal Degeneration in Brothers With Apparent Cohen Syndrome: Nosology With Mirhosseini-Holmes-WaltonSyndrome 0. Steinlein, G. Tariverdian, H.U. Boll, and F. Vogel Institute of Human Genetics, University of Heidelberg, Heidelberg, (O.S., G.T., F.V.), and Johannes Anstalten Mosbach (H.U.B.),Mosbach, Germany ~
~
We report on 2 brothers with marked eye anomalies, documented with histopathological studies, and several other findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Waltonsyndromes. In accordance with Norio and Raitta (Norio R, Raitta C (1986): Am J Med Genet 25397-3981 we come to the conclusionthat these 2 syndromes constitute one clinical but possibly heterogeneous entity. KEY WORDS: histopathological investigation, clinical heterogeneous entity, marked eye anomalies INTRODUCTION In 1973, Cohen et al. reported on 3 patients with mental retardation, microcephaly, obesity, characteristic craniofacial changes, and narrow hands and feet. In their description mottled retinal pigment, coloboma, myopia, and microphthalmia were mentioned. The variability in subsequently published cases is great. In 1984, Norio et al. added chorioretinal dystrophy as an important manifestation of the Cohen syndrome. Most of the published patients with Cohen syndrome have eye anomalies, such as cataract, retinal pigmentary changes, and myopia. Chorioretinopathy has been described in 40% of the reported patients. This estimate might be too low, because the severe mental retardation impedes an exact ophthalmological examination. In 1972, Mirhosseini et al. described 2 brothers with microcephaly, mental retardation, and retinal pigmentary degeneration. A second report of this so-called Mirhosseini-Holmes-Walton syndrome was given by Mendez et al. [19851 who described 2 sisters who also had Received for publication July 6,1990; revision received February 14, 1991. Address reprint requests to Dr. 0. Steinlein, Institut fur Humangenetik und Anthropologie der Universitat, Heidelberg, Im Neuenheimer Feld 328, D-6900 Heidelberg, Federal Republic of Germany.
0 1991 Wiley-Liss, Inc.
cerebral palsy, clinodactyly, cutaneous syndactyly, and truncal obesity. We now report on 2 brothers with apparent Cohen syndrome, and severe involvement of the eyes, and discuss the similarity between the Cohen and the Mirhosseini-Holmes-Waltonsyndromes. In addition we give, to the best of our knowledge, the first description of histopathological investigations of the eye in this syndrome.
CLINICAL CASE REPORTS The 2 affected brothers are the 3rd and 4th of 5 children of non-consanguineous Caucasian parents. The family history was unremarkable. The early death of the father resulted from alcoholism; the mother and 3 sibs are healthy and intellectually normal (Fig. 1). Patient 1 R.Z., 30 years old, is severely mentally retarded without speech. He has no signs of deafness and has some, albeit reduced, speech comprehension. He is 155 cm tall (
