JEUNE SYNDROME WITH TONGUE LOBULATION AND PREAXIAL POLYDACTYLY, AND JEUNE SYNDROME WITH SITUS-INVERSUS AND ASPLENIA - COMPOUND HETEROZYGOSITY JEUNE-MOHR AND JEUNE-IVEMARK

We report on a male infant with internal hydrocephalus, absence of cor pus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short lim bs with bowed long tubular bones and postaxial polydactyly of hands, a nd preaxial polydactyly in one foot. Radiologically this case shares m anifestations with Jeune syndrome; the tongue lobulation and the preax ial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female new born presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes. (C) 1996 Wiley-Liss, Inc.