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 corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short limbs with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot. Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female newborn presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes.
Majewski
E
E
Institut für Humangenetik und Anthropologie, Heinrich-Heine Universität Düsseldorf, Germany.
Oztürk
B
B
Gillessen-Kaesbach
G
G
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D006849:Hydrocephalus; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*