Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer Press Inc
Journal website http://www.jocmr.org

Case Report

Volume 7, Number 12, December 2015, pages 1002-1006


Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

Figures

Figure 1.
Figure 1. Photo showed deceleration of growth (-3 SD) and peculiar craniofacial and oral abnormalities such as sparse skull hair, frontal bossing, depressed nasal bridge and hypertelorism and epicanthic folds. Patient manifested bifid nose with hypoplasia of the alae and a short philtrum and a median partial cleft lip and an operated unilateral paramedian cleft and lobated tongue with a papilliform protuberance and hamartoma of the ventral surface of the tongue.
Figure 2.
Figure 2. Flattening of the alveolar crest with a median sulcus and several nodules and a cleft palate associated with gingival fibromatosis, fusion of the lateral incisors (bilaterally). Ears were large, low-set and showed ill-defined modeling.
Figure 3.
Figure 3. The hands were short with clinodactyly of the fifth fingers and his bilateral postaxial hexadactyly were operated early on. The feet were short with duplication of the hallux (polysyndactyly). Anteroposterior radiograph of the hands showed bilateral ulnar deviation, unilateral synostosis of the right third and fourth metacarpals, and marked dysplasia of the intermediate phalanges bilaterally.
Figure 4.
Figure 4. Lateral skull radiograph showed obtuse angle of the mandible, wormian bones, hypoplasia of the zygoma, mandible and maxilla respectively.
Figure 5.
Figure 5. Lower limb standing radiograph showed a hypoplastic iliac bones, severe coxa valga, associated moderate subluxation of the hip because of incomplete development of the acetabulae with over-tubulation of the long bones.