Van Allen-Myhre Syndrome: Report of a New Case with Chondrodysplasia Punctata. S. Parkash1,2, S. Keating3, E. Kolomietz3, D. Chitayat1,2 1) Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada; 2) Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada; 3) Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, Toronto, Ontario, Canada.
Van Allen-Myhre Syndrome consists of ectopia cordis, exomphalos, ectrodactyly, oligodactyly, absent sacrum, radial hypoplasia, microphthalmia, hemifacial microsomia, and cutis aplasia, among other findings. The syndrome was first described in a female infant of Mexican-American first cousins (Van Allen and Myhre, 1991). A second case was reported by Zolotukhina et al (1993). A third case, though not labeled as having Van Allen-Myhre Syndrome, describes a fetus with many features of the syndrome (Pivnick et al, 1998). Hancock et al (2002) reported a case initially thought to be suggestive of Van Allen-Myhre Syndrome, however was later felt to have features of Goltz Syndrome (Hancock et al, 2002). Goltz Syndrome, a presumed X-linked dominant disorder linked to Xp22, is associated with defects in the skin, skeleton, soft tissues, and eyes. We report a fetus with ectopia cordis, omphalocele, hyperlordosis, scoliosis, and ectrodactyly. Karyotype and microarray analysis was normal, with no deletion in the Xp22 region. Xrays revealed changes consistent with chondrodysplasia punctata. To our knowledge, this is the 4th case of Van Allen-Myhre Syndrome reported in the literature, and the first case with chondrodysplasia punctata, which adds to the confusion regarding overlap between this condition and Goltz Syndrome.
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