title: Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).
abstract: We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. Interestingly, we encountered variable minor malformations in his parents, confirming the autosomal recessive pattern of inheritance. There were no microdeletions or microduplications after performing array-CGH-analysis. We report what might be a constellation of unreported skeletal abnormalities in a child with OFD type II (Mohr syndrome).
authors.affiliation: Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
authors.forename: Ali Al
authors.initials: AA
authors.lastname: Kaissi
authors.affiliation: Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
authors.forename: Renata
authors.initials: R
authors.lastname: Pospischill
authors.affiliation: Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.affiliation: Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
keywords: Distinctive bony changes; Mohr syndrome; OFD type II; Radiology