Sentences with phrase «craniofacial appearance»

Both have severe intellectual disability, hypotonia, seizures, and a distinctive craniofacial appearance.

In the recent case series, most infants with probable congenital ZIKV infection were noted to have craniofacial disproportion (95.8 %) and, to a lesser degree, biparietal depression (83.3 %), prominent occiput (75 %), and excess nuchal skin (47.9 %).38 Features supportive of the FBDS phenotype scattered through published reports include redundant scalp, 27,36,39,41 occipital prominence and / or overlapping sutures,14,20,22 - 24, 26,27,38 and typical craniofacial appearance with disproportion.13, 27,33,34,40 The FBDS phenotype is also prevalent in ZIKV - related media.47 Among infants with severe microcephaly, the pattern appears to be consistent, although the degree of cranial vault deformation varies.

Not exact matches

We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias.