Reply to letter to the editor by Kozlows
โ Robertson, Stephen
๐ Article
๐
1999
๐ John Wiley and Sons
๐ English
โ 1 KB
๐ 2 views
โฆ LIBER โฆ
Radiographic documentation does not permit the diagnosis of MNS
โ Scribed by Kozlowski, K.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 1 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990702)85:1<88::aid-ajmg17>3.0.co;2-d
No coin nor oath required. For personal study only.
โฆ Synopsis
In a recent article by , the authors report a kindred in which the females had skeletal changes characteristic of Melnick-Needles syndrome (MNS), whereas males born to those women exhibited lethal congenital anomalies consistent with otopalato-digital syndrome II (OPDII).
The radiographic documentation of the patients as presented in the article does not permit the diagnosis of MNS. Changes in the women as reported by the authors are consistent with OPD. In our review of MNS [1994], diagnostic changes in the skeleton were localised in the pelvis, chest, and proximal radius (Maroteaux). The most important changes in the skull were sclerosis of the base of the skull, Wormian bones, and a small mandible. Flaring of the distal femur was accompanied by genu valgum. The face of the woman presented does not show the clinical appearance of MNS,
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