Oto-palato-digital syndrome, type II: Evidence for defective intramembranous ossification
β Scribed by Ogata, Tsutomu ;Matsuo, Nobutake ;Nishimura, Gen ;Hajikano, Hiroshi
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 771 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0148-7299
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We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto-pala
The oto-palato-digital syndrome type II (OPD II), an X-linked semidominant multiple congenital anomalies syndrome with high male lethality (MIM 304120) and more than 100 anomalies reported in over 20 cases, shows phenotypic similarities to the X-linked dominant disorder described in males born to mo
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Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic defect is not known. There has been only one detailed report of the chondro-osseous abnormalities in this condition describing abnormal periosteal ossification in a single