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A New Syndrome

Masza Mukamel, MD; Raphael Weitz, MD; Aryeh Metzker, MD; Itzak Varsano, MD

Am J Dis Child. 1985;139(11):1090-1092.

Abstract
• Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from Israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.

(AJDC 1985;139:1090-1092)

Author Affiliations
From the Department of Pediatrics "B" (Drs Mukamel and Varsano), Pediatric Neurology Clinic (Dr Weitz), and Pediatric Dermatology Clinic (Dr Metzker), Beilinson Medical Center, Petah Tiqva, Israel, and Tel Aviv (Israel) University School of Medicine.

Footnotes
Reprint requests to Department of Pediatrics "B," Beilinson Medical Center, Petah Tiqva 49 100, Israel (Dr Mukamel).

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