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The oto-palato-digital syndrome, proposed type II

✍ 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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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

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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

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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

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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