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, proposed type II
β Scribed by Fitch, N. ;Jequier, S. ;Gorlin, R. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 554 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0148-7299
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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
## To the Editor: Oto-palato-digital syndrome (OPD) type I is an Xlinked recessive disorder comprising characteristic facial appearance and skeletal alterations. Although mild mental deficiency is common in this entity, very little is known about abnormalities of the central nervous system. We enc
Melnick-Needles syndrome (MNS) is a female-limited skeletal dysplasia inherited in a X-linked dominant pattern. Males born to women with MNS may exhibit lethal multiple congenital anomalies, but recurrence of this phenotype within one family has not been reported. Males with oto-palato-digital syndr
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