Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families. No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder.
The association with benign and malignant testicular tumours, as described in adults, also seems valid in the paediatric age group. Therefore, children with testicular microlithiasis should have clinical and US long-term follow-up.
A 10-month-old boy presented with a 6-week history of abdominal pain. The pain was due to a large, stage IV embryonal rhabdomyosarcoma of the urinary bladder. The rhabdomyosarcoma was found in association with neurofibromatosis 1 (NF1) manifesting multiple café au lait spots and bowing of the right calf. The diagnosis of NF1 had not been made before presentation. This case report is intended to heighten the awareness of the manifestations of NF1 and the possibility of developing a nonneuroectodermal tumor as a concomitant of NF1, and to emphasize the importance of timely diagnosis and treatment of such an NF1-associated malignancy. Reports of the epidemiologic evidence for rhabdomyosarcoma in children with NF1 are reviewed.
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