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 in four generations of a larqe family
β Scribed by Uco E. Pazzaglia; Giampiero Beluffi
- Book ID
- 115089437
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 442 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0009-9163
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## 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
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